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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   SPTBN1_chr2_54451327_54676446  SPTBN1_chr2_54451327_54676446 (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 6711
ensemblid ENSG00000115306.17
hgncid 11275
symbol SPTBN1
name spectrin beta, non-erythrocytic 1
refseq_nuc NM_003128.3
refseq_prot NP_003119.2
ensembl_nuc ENST00000356805.9
ensembl_prot ENSP00000349259.4
mane_status MANE Select
chr chr2
start 54456327
end 54671446
strand +
ver v1.2
region chr2:54456327-54671446
region5000 chr2:54451327-54676446
regionname0 SPTBN1_chr2_54456327_54671446
regionname5000 SPTBN1_chr2_54451327_54676446

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 2364 351 91 66 142 14 36 114 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0002 0/0 2364 11 0 0 8 0 3 8 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0003 0/0 2364 1 0 0 1 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0004 0/0 2364 1 0 0 1 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0005 0/0 2364 1 0 0 1 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0006 0/0 2364 1 0 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0007 0/0 2364 1 0 0 1 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0008 0/0 2364 1 1 0 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0009 0/0 2364 1 0 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0010 0/0 2364 1 0 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446

chapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 7095 109 12 13 68 3 11 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0002 0/0 7095 71 2 21 36 4 8 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0003 0/0 7095 38 17 5 11 1 4 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0004 0/0 7095 38 7 11 12 3 5 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0005 0/0 7095 29 28 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0006 0/0 7095 11 0 0 8 0 3 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0007 0/0 7095 10 4 2 4 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0008 0/0 7095 9 9 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0009 0/0 7095 9 0 7 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0010 0/0 7095 5 0 3 2 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0011 0/0 7095 5 0 1 0 2 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0012 0/0 7095 4 4 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0013 0/0 7095 4 3 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0014 0/0 7095 3 0 0 3 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0015 0/0 7095 2 0 0 2 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0016 0/0 7095 2 0 0 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0017 0/0 7095 2 0 0 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0018 0/0 7095 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0019 0/0 7095 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0020 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0021 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0022 0/0 7095 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0023 0/0 7095 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0024 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0025 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0026 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0027 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0028 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0029 0/0 7095 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0030 0/0 7095 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0031 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0032 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0033 0/0 7095 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
c0034 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 3121 54 1 11 35 2 5 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0002 0/0 3119 52 3 5 41 1 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0003 0/0 3117 51 24 7 13 2 5 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0004 0/0 3120 45 2 9 28 3 3 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0005 0/1 3118 29 7 3 7 3 8 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0006 0/0 3120 23 1 11 10 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0007 0/0 3120 18 4 8 5 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0008 0/0 3121 9 9 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0009 0/0 3117 7 0 0 7 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0010 0/0 3119 6 2 0 0 0 4 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0011 0/0 3121 4 4 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0012 0/0 3120 4 3 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0013 0/0 3116 4 4 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0014 0/0 3119 4 0 0 0 0 4 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0015 0/0 3118 4 3 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0016 0/0 3118 4 4 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0017 0/0 3119 3 0 3 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0018 0/0 3119 3 2 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0019 0/0 3118 3 3 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0020 0/0 3119 3 0 0 3 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0021 0/0 3122 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0022 0/0 3118 2 0 0 1 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0023 0/0 3116 2 0 1 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0024 0/0 3117 2 0 0 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0025 0/0 3119 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0026 0/0 3120 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0027 0/0 3120 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0028 0/0 3121 2 0 0 0 2 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0029 0/0 3121 2 0 1 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0030 0/0 3117 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0031 0/0 3121 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0032 0/0 3117 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0033 0/0 3157 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0034 0/0 3118 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0035 0/0 3120 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0036 0/0 3117 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0037 0/0 3117 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0038 1/0 3117 1 0 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0039 0/0 3118 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0040 0/0 3119 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0041 0/0 3119 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0042 0/0 3120 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0043 0/0 3120 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0044 0/0 3120 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0045 0/0 3120 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0046 0/0 3121 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0047 0/0 3121 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0048 0/0 3121 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0049 0/0 3119 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0050 0/0 3118 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
t0051 0/0 3119 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0002 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0003 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0004 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0005 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0006 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0007 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0008 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0009 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0010 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0011 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0012 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0013 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0014 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0015 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0016 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0017 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0018 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0019 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0020 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0021 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0022 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0023 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0024 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0025 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0026 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0027 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0028 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0029 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0030 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0031 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0032 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0033 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0034 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0035 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0036 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0037 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0038 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0039 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0040 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0041 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0042 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0043 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0044 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0045 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0046 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0047 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0048 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0049 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0050 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0051 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0052 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0053 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0054 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0055 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0056 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0057 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0058 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0059 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0060 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0061 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0062 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0063 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0064 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0065 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0066 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0067 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0068 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0069 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0070 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0071 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0072 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0073 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0074 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0075 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0076 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0077 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0078 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0079 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0080 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0081 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0082 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0083 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0084 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0085 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0086 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0087 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0088 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0089 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0090 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0091 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0092 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0093 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0094 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0095 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0096 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0097 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0098 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0099 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0100 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0101 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0102 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0103 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0104 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0105 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0106 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0107 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0108 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0109 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0110 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0111 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0112 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0113 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0114 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0115 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0116 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0117 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0118 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0119 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0120 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0121 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0122 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0123 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0124 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0125 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0126 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0127 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0128 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0129 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0130 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0131 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0132 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0133 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0134 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0135 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0136 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0137 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0138 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0139 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0140 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0141 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0142 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0143 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0144 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0145 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0146 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0147 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0148 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0149 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0150 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0151 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0152 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0153 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0154 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0155 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0156 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0157 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0158 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0159 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0160 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0161 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0162 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0163 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0164 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0165 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0166 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0167 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0168 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0169 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0170 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0171 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0172 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0173 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0174 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0175 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0176 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0177 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0178 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0179 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0180 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0181 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0182 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0183 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0184 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0185 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0186 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0187 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0188 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0189 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0190 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0191 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0192 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0193 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0194 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0195 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0196 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0197 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0198 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0199 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0200 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0201 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0202 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0203 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0204 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0205 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0206 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0207 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0208 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0209 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0210 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0211 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0212 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0213 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0214 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0215 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0216 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0217 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0218 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0219 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0220 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0221 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0222 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0223 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0224 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0225 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0226 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0227 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0228 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0229 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0230 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0231 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0232 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0233 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0234 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0235 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0236 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0237 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0238 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0239 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0240 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0241 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0242 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0243 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0244 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0245 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0246 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0247 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0248 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0249 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0250 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0251 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0252 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0253 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0254 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0255 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0256 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0257 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0258 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0259 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0260 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0261 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0262 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0263 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0264 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0265 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0266 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0267 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0268 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0269 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0270 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0271 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0272 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0273 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0274 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0275 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0276 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0277 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0278 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0279 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0280 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0281 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0282 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0283 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0284 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0285 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0286 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0287 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0288 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0289 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0290 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0291 0/1 1 0 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0292 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0293 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0294 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0295 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0296 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0297 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0298 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0299 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0300 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0301 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0302 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0303 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0304 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0305 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0306 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0307 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0308 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0309 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0310 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0311 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0312 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0313 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0314 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0315 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0316 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0317 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0318 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0319 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0320 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0321 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0322 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0323 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0324 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0325 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0326 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0327 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0328 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0329 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0330 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0331 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0332 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0333 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0334 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0335 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0336 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0337 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0338 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0339 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0340 1/0 1 0 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0341 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0342 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0343 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0344 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0345 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0346 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0347 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0348 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0349 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0350 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0351 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0352 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0353 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0354 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0355 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0356 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0357 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0358 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0359 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0360 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0361 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0362 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0363 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0364 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0365 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0366 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0367 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0368 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0369 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
g0370 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446

achapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 7095 109 12 13 68 3 11 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002 0/0 7095 71 2 21 36 4 8 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003 0/0 7095 38 17 5 11 1 4 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0004 0/0 7095 38 7 11 12 3 5 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005 0/0 7095 29 28 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0007 0/0 7095 10 4 2 4 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0008 0/0 7095 9 9 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0009 0/0 7095 9 0 7 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0010 0/0 7095 5 0 3 2 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0011 0/0 7095 5 0 1 0 2 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0012 0/0 7095 4 4 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0013 0/0 7095 4 3 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0014 0/0 7095 3 0 0 3 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0015 0/0 7095 2 0 0 2 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0016 0/0 7095 2 0 0 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0017 0/0 7095 2 0 0 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0018 0/0 7095 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0019 0/0 7095 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0020 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0021 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0023 0/0 7095 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0025 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0026 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0029 0/0 7095 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0033 0/0 7095 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0002c0006 0/0 7095 11 0 0 8 0 3 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0003c0031 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0004c0032 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0005c0028 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0006c0027 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0007c0024 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0008c0030 0/0 7095 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0009c0022 0/0 7095 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0010c0034 0/0 7095 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 10215 2 0 1 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0002 0/0 10213 43 2 4 36 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0003 0/0 10211 4 2 2 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0004 0/0 10214 13 0 0 12 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0005 0/1 10212 18 0 3 7 2 5 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0007 0/0 10214 5 0 0 5 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0010 0/0 10213 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0014 0/0 10213 4 0 0 0 0 4 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0018 0/0 10213 3 2 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0019 0/0 10212 3 3 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0020 0/0 10213 3 0 0 3 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0022 0/0 10212 2 0 0 1 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0029 0/0 10215 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0038 1/0 10211 1 0 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0039 0/0 10212 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0040 0/0 10213 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0041 0/0 10213 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0044 0/0 10214 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0049 0/0 10213 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0001t0050 0/0 10212 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0001 0/0 10215 41 1 8 25 2 5 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0004 0/0 10214 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0005 0/0 10212 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0006 0/0 10214 22 1 11 9 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0028 0/0 10215 2 0 0 0 2 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0029 0/0 10215 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0046 0/0 10215 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0047 0/0 10215 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0002t0048 0/0 10215 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003t0003 0/0 10211 24 15 5 3 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003t0004 0/0 10214 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003t0009 0/0 10211 6 0 0 6 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003t0024 0/0 10211 2 0 0 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003t0027 0/0 10214 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003t0032 0/0 10211 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003t0033 0/0 10251 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0003t0036 0/0 10211 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0004t0002 0/0 10213 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0004t0004 0/0 10214 28 2 9 12 3 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0004t0007 0/0 10214 4 2 2 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0004t0010 0/0 10213 4 1 0 0 0 3 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0004t0035 0/0 10214 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0003 0/0 10211 7 7 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0008 0/0 10215 9 9 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0011 0/0 10215 4 4 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0012 0/0 10214 2 1 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0021 0/0 10216 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0025 0/0 10213 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0031 0/0 10215 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0034 0/0 10212 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0005t0043 0/0 10214 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0007t0001 0/0 10215 6 0 2 4 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0007t0013 0/0 10210 4 4 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0008t0005 0/0 10212 7 7 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0008t0026 0/0 10214 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0009t0002 0/0 10213 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0009t0007 0/0 10214 6 0 5 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0009t0010 0/0 10213 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0009t0045 0/0 10214 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0010t0002 0/0 10213 2 0 0 2 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0010t0017 0/0 10213 3 0 3 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0011t0003 0/0 10211 3 0 0 0 1 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0011t0023 0/0 10210 2 0 1 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0012t0016 0/0 10212 4 4 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0013t0015 0/0 10212 4 3 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0014t0001 0/0 10215 2 0 0 2 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0014t0037 0/0 10211 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0015t0002 0/0 10213 2 0 0 2 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0016t0005 0/0 10212 2 0 0 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0017t0002 0/0 10213 2 0 0 0 0 2 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0018t0007 0/0 10214 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0018t0042 0/0 10214 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0019t0012 0/0 10214 2 2 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0020t0002 0/0 10213 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0021t0001 0/0 10215 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0023t0005 0/0 10212 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0025t0003 0/0 10211 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0026t0006 0/0 10214 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0029t0007 0/0 10214 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0001c0033t0007 0/0 10214 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0002c0006t0003 0/0 10211 11 0 0 8 0 3 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0003c0031t0004 0/0 10214 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0004c0032t0004 0/0 10214 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0005c0028t0001 0/0 10215 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0006c0027t0003 0/0 10211 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0007c0024t0009 0/0 10211 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0008c0030t0030 0/0 10211 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0009c0022t0051 0/0 10213 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446
a0010c0034t0001 0/0 10215 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 copy fasta chr2 54451327 54676446

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0087 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0001g0156 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0007 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0012 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0015 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0017 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0018 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0020 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0021 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0030 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0033 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0035 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0079 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0084 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0085 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0090 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0094 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0095 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0120 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0123 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0128 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0163 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0167 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0168 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0169 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0207 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0208 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0210 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0214 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0215 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0216 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0217 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0219 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0224 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0225 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0239 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0249 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0293 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0301 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0316 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0338 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0349 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0350 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0351 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0002g0367 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0003g0059 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0003g0060 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0003g0061 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0003g0223 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0001 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0070 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0091 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0092 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0093 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0125 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0129 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0130 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0142 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0143 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0144 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0145 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0004g0213 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0106 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0126 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0136 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0203 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0206 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0211 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0221 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0291 0/1 1 0 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0309 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0322 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0341 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0342 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0343 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0344 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0345 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0346 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0353 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0005g0354 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0007g0019 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0007g0196 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0007g0270 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0007g0296 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0007g0347 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0010g0238 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0014g0097 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0014g0104 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0014g0105 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0014g0282 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0018g0127 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0018g0180 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0018g0303 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0019g0031 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0019g0183 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0019g0241 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0020g0022 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0020g0023 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0020g0032 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0022g0118 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0022g0164 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0029g0100 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0038g0340 1/0 1 0 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0039g0058 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0040g0300 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0041g0247 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0044g0297 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0049g0076 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0001t0050g0242 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0009 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0010 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0028 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0065 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0066 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0067 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0077 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0080 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0082 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0083 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0086 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0103 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0111 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0115 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0117 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0121 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0124 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0133 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0146 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0147 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0186 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0204 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0231 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0273 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0274 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0275 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0287 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0307 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0308 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0310 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0312 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0324 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0325 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0326 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0330 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0331 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0333 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0334 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0335 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0337 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0001g0359 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0004g0101 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0005g0122 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0089 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0114 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0116 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0148 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0149 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0154 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0155 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0157 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0158 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0159 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0160 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0271 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0276 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0278 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0281 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0284 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0299 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0313 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0314 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0323 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0327 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0006g0328 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0028g0294 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0028g0295 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0029g0339 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0046g0332 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0047g0279 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0002t0048g0025 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0008 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0036 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0037 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0073 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0074 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0113 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0138 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0139 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0177 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0251 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0256 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0257 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0261 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0262 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0292 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0304 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0305 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0319 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0320 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0355 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0356 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0357 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0360 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0003g0366 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0004g0024 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0009g0227 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0009g0233 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0009g0234 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0009g0235 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0009g0236 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0009g0237 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0024g0362 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0024g0363 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0027g0053 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0027g0054 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0032g0321 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0033g0172 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0003t0036g0361 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0002g0161 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0068 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0069 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0071 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0072 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0096 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0098 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0107 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0131 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0132 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0134 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0166 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0170 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0193 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0194 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0195 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0201 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0202 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0205 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0209 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0218 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0264 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0265 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0266 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0267 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0277 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0317 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0318 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0004g0358 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0007g0055 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0007g0057 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0007g0110 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0007g0173 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0010g0109 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0010g0175 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0010g0315 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0010g0348 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0004t0035g0042 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0003g0004 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0003g0005 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0003g0047 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0003g0181 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0003g0182 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0003g0190 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0003g0191 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0041 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0048 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0049 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0050 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0056 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0062 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0176 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0269 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0008g0368 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0011g0038 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0011g0051 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0011g0253 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0011g0254 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0012g0369 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0012g0370 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0021g0040 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0021g0052 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0025g0240 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0025g0250 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0031g0187 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0034g0003 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0005t0043g0039 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0001g0081 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0001g0119 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0001g0192 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0001g0222 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0001g0302 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0001g0311 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0013g0043 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0013g0044 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0013g0108 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0007t0013g0137 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0005g0045 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0005g0046 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0005g0243 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0005g0244 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0005g0245 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0005g0260 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0005g0306 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0026g0364 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0008t0026g0365 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0002g0285 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0007g0272 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0007g0280 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0007g0286 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0007g0288 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0007g0289 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0007g0336 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0010g0088 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0009t0045g0298 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0010t0002g0140 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0010t0002g0199 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0010t0017g0150 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0010t0017g0162 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0010t0017g0198 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0011t0003g0171 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0011t0003g0228 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0011t0003g0268 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0011t0023g0229 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0011t0023g0230 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0012t0016g0026 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0012t0016g0135 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0012t0016g0153 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0012t0016g0189 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0013t0015g0255 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0013t0015g0258 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0013t0015g0259 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0013t0015g0263 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0014t0001g0013 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0014t0001g0029 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0014t0037g0011 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0015t0002g0212 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0015t0002g0220 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0016t0005g0064 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0016t0005g0099 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0017t0002g0165 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0017t0002g0226 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0018t0007g0112 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0018t0042g0027 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0019t0012g0246 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0019t0012g0252 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0020t0002g0034 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0021t0001g0197 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0023t0005g0283 0/0 1 0 0 0 1 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0025t0003g0352 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0026t0006g0102 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0029t0007g0290 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0001c0033t0007g0248 0/0 1 0 1 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0014 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0016 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0141 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0151 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0152 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0178 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0179 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0184 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0185 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0188 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0002c0006t0003g0200 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0003c0031t0004g0063 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0004c0032t0004g0329 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0005c0028t0001g0006 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0006c0027t0003g0075 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0007c0024t0009g0232 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0008c0030t0030g0174 0/0 1 1 0 0 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0009c0022t0051g0078 0/0 1 0 0 0 0 1 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
a0010c0034t0001g0002 0/0 1 0 0 1 0 0 SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0003 t0003 g0355 EUR GBR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00099 hp2 a0001 c0001 t0005 g0136 EUR GBR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00140 hp1 a0001 c0002 t0001 g0273 EUR GBR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00140 hp2 a0001 c0011 t0003 g0171 EUR GBR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00280 hp1 a0001 c0011 t0023 g0230 EUR FIN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00280 hp2 a0001 c0002 t0028 g0295 EUR FIN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00323 hp1 a0001 c0004 t0004 g0131 EUR FIN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00323 hp2 a0001 c0002 t0028 g0294 EUR FIN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00408 hp1 a0001 c0007 t0001 g0081 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00408 hp2 a0001 c0001 t0002 g0012 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00423 hp1 a0006 c0027 t0003 g0075 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00423 hp2 a0001 c0001 t0002 g0033 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00438 hp1 a0001 c0026 t0006 g0102 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00438 hp2 a0001 c0001 t0004 g0125 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00558 hp1 a0001 c0001 t0002 g0224 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00558 hp2 a0001 c0001 t0029 g0100 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00609 hp1 a0001 c0001 t0004 g0129 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00609 hp2 a0001 c0025 t0003 g0352 EAS CHS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00639 hp1 a0001 c0007 t0001 g0311 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00639 hp2 a0001 c0002 t0029 g0339 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00735 hp1 a0001 c0002 t0001 g0275 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00735 hp2 a0001 c0010 t0017 g0198 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00738 hp1 a0001 c0001 t0049 g0076 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00738 hp2 a0001 c0002 t0006 g0155 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00741 hp1 a0001 c0002 t0001 g0204 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG00741 hp2 a0001 c0004 t0004 g0170 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01071 hp1 a0001 c0002 t0001 g0335 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01071 hp2 a0001 c0004 t0007 g0173 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01081 hp1 a0001 c0002 t0001 g0067 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01081 hp2 a0001 c0004 t0007 g0110 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01106 hp1 a0001 c0003 t0003 g0292 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01106 hp2 a0001 c0009 t0007 g0280 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01109 hp1 a0001 c0003 t0003 g0360 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01109 hp2 a0001 c0005 t0012 g0370 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01167 hp1 a0001 c0009 t0007 g0289 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01167 hp2 a0001 c0001 t0003 g0059 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01168 hp1 a0001 c0004 t0004 g0096 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01168 hp2 a0001 c0011 t0023 g0229 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01169 hp1 a0001 c0004 t0004 g0072 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01169 hp2 a0001 c0009 t0007 g0288 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01175 hp1 a0001 c0002 t0006 g0314 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01175 hp2 a0001 c0004 t0004 g0318 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01192 hp1 a0001 c0004 t0004 g0205 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01192 hp2 a0001 c0002 t0001 g0066 AMR PUR SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01255 hp1 a0001 c0001 t0002 g0163 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01255 hp2 a0001 c0001 t0003 g0223 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01256 hp1 a0001 c0003 t0003 g0320 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01256 hp2 a0001 c0007 t0001 g0302 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01257 hp1 a0001 c0002 t0001 g0337 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01257 hp2 a0001 c0004 t0004 g0264 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01258 hp1 a0001 c0004 t0004 g0265 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01258 hp2 a0001 c0003 t0003 g0357 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01261 hp1 a0001 c0001 t0041 g0247 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01261 hp2 a0001 c0003 t0003 g0319 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01346 hp1 a0001 c0001 t0040 g0300 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01346 hp2 a0001 c0013 t0015 g0259 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01361 hp1 a0001 c0002 t0006 g0159 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01361 hp2 a0001 c0001 t0005 g0341 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01433 hp1 a0001 c0002 t0047 g0279 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01433 hp2 a0001 c0009 t0007 g0272 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01496 hp1 a0001 c0001 t0005 g0345 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01496 hp2 a0001 c0004 t0004 g0166 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01515 hp1 a0001 c0001 t0005 g0344 EUR IBS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01515 hp2 a0001 c0004 t0004 g0266 EUR IBS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01517 hp1 a0001 c0023 t0005 g0283 EUR IBS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01517 hp2 a0001 c0004 t0004 g0069 EUR IBS SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01884 hp1 a0001 c0003 t0003 g0262 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01884 hp2 a0001 c0003 t0003 g0304 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01943 hp1 a0001 c0009 t0002 g0285 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01943 hp2 a0001 c0002 t0006 g0299 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01952 hp1 a0001 c0002 t0006 g0158 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01952 hp2 a0001 c0004 t0004 g0267 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01975 hp1 a0001 c0009 t0007 g0336 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01975 hp2 a0001 c0002 t0006 g0157 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01978 hp1 a0001 c0010 t0017 g0162 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01978 hp2 a0001 c0009 t0045 g0298 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01981 hp1 a0001 c0033 t0007 g0248 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01981 hp2 a0001 c0002 t0006 g0281 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01993 hp1 a0001 c0002 t0006 g0148 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01993 hp2 a0001 c0001 t0002 g0168 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02004 hp1 a0001 c0002 t0006 g0116 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02004 hp2 a0001 c0001 t0001 g0156 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02015 hp1 a0001 c0001 t0002 g0351 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02015 hp2 a0001 c0003 t0003 g0177 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02027 hp1 a0001 c0001 t0002 g0018 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02027 hp2 a0001 c0001 t0005 g0346 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02040 hp1 a0010 c0034 t0001 g0002 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02040 hp2 a0001 c0020 t0002 g0034 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02055 hp1 a0001 c0008 t0005 g0306 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02055 hp2 a0001 c0001 t0018 g0303 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02071 hp1 a0001 c0002 t0006 g0276 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02071 hp2 a0001 c0001 t0002 g0214 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02080 hp1 a0001 c0004 t0004 g0068 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02080 hp2 a0001 c0002 t0001 g0186 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02083 hp1 a0001 c0002 t0001 g0080 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02083 hp2 a0001 c0001 t0002 g0338 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02135 hp1 a0001 c0002 t0006 g0278 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02135 hp2 a0001 c0003 t0003 g0074 EAS KHV SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02145 hp1 a0001 c0004 t0010 g0315 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02145 hp2 a0001 c0007 t0013 g0044 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02155 hp1 a0001 c0002 t0006 g0284 EAS CDX SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02155 hp2 a0001 c0001 t0002 g0225 EAS CDX SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02165 hp1 a0001 c0002 t0006 g0114 EAS CDX SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02165 hp2 a0001 c0001 t0007 g0019 EAS CDX SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02257 hp1 a0001 c0002 t0006 g0149 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02257 hp2 a0001 c0008 t0026 g0364 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02258 hp1 a0001 c0005 t0012 g0369 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02258 hp2 a0001 c0003 t0003 g0356 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02273 hp1 a0001 c0001 t0002 g0207 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02273 hp2 a0001 c0002 t0006 g0154 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02280 hp1 a0001 c0001 t0019 g0183 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02280 hp2 a0001 c0001 t0019 g0241 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02293 hp1 a0001 c0010 t0017 g0150 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02293 hp2 a0001 c0002 t0001 g0147 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02300 hp1 a0001 c0002 t0001 g0274 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02300 hp2 a0001 c0001 t0002 g0167 AMR PEL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02451 hp1 a0001 c0008 t0005 g0260 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02451 hp2 a0001 c0001 t0003 g0061 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02572 hp1 a0001 c0005 t0011 g0254 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02572 hp2 a0001 c0005 t0008 g0056 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02602 hp1 a0002 c0006 t0003 g0016 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02602 hp2 a0001 c0001 t0004 g0070 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02615 hp1 a0001 c0008 t0005 g0045 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02615 hp2 a0001 c0005 t0003 g0191 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02622 hp1 a0001 c0001 t0039 g0058 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02622 hp2 a0001 c0019 t0012 g0246 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02630 hp1 a0001 c0005 t0025 g0250 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02630 hp2 a0001 c0003 t0003 g0257 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02647 hp1 a0001 c0005 t0021 g0052 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02647 hp2 a0001 c0004 t0007 g0057 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02683 hp1 a0001 c0002 t0001 g0133 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02683 hp2 a0001 c0004 t0004 g0134 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02698 hp1 a0001 c0002 t0001 g0103 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02698 hp2 a0001 c0003 t0036 g0361 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02717 hp1 a0001 c0001 t0002 g0249 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02717 hp2 a0008 c0030 t0030 g0174 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02738 hp1 a0001 c0011 t0003 g0228 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02738 hp2 a0001 c0001 t0014 g0105 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02809 hp1 a0001 c0008 t0005 g0046 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02809 hp2 a0001 c0012 t0016 g0153 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02818 hp1 a0001 c0001 t0018 g0180 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02818 hp2 a0001 c0005 t0021 g0040 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02886 hp1 a0001 c0005 t0043 g0039 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02886 hp2 a0001 c0005 t0008 g0048 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02895 hp1 a0001 c0004 t0004 g0098 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02895 hp2 a0001 c0012 t0016 g0189 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02897 hp1 a0001 c0004 t0004 g0132 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02897 hp2 a0001 c0003 t0003 g0256 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02922 hp1 a0001 c0001 t0002 g0367 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02922 hp2 a0001 c0004 t0007 g0055 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02965 hp1 a0001 c0003 t0003 g0261 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02965 hp2 a0001 c0008 t0005 g0245 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02970 hp1 a0001 c0001 t0010 g0238 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02970 hp2 a0001 c0003 t0003 g0008 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02976 hp1 a0001 c0003 t0003 g0366 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02976 hp2 a0001 c0018 t0007 g0112 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03017 hp1 a0001 c0001 t0005 g0353 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03017 hp2 a0001 c0002 t0005 g0122 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03041 hp1 a0001 c0003 t0003 g0251 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03041 hp2 a0001 c0005 t0003 g0182 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03098 hp1 a0001 c0003 t0003 g0305 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03098 hp2 a0001 c0003 t0003 g0037 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03130 hp1 a0001 c0013 t0015 g0263 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03130 hp2 a0001 c0005 t0034 g0003 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03139 hp1 a0001 c0007 t0013 g0043 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03139 hp2 a0001 c0007 t0013 g0108 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03195 hp1 a0001 c0004 t0002 g0161 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03195 hp2 a0001 c0007 t0013 g0137 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03209 hp1 a0001 c0013 t0015 g0255 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03209 hp2 a0001 c0005 t0011 g0253 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03225 hp1 a0001 c0012 t0016 g0026 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03225 hp2 a0001 c0005 t0003 g0181 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03453 hp1 a0001 c0005 t0008 g0176 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03453 hp2 a0001 c0005 t0011 g0051 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03490 hp1 a0001 c0001 t0014 g0097 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03490 hp2 a0001 c0003 t0024 g0362 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03491 hp1 a0001 c0009 t0010 g0088 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03491 hp2 a0001 c0002 t0001 g0287 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03492 hp1 a0001 c0003 t0024 g0363 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03492 hp2 a0001 c0009 t0007 g0286 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03516 hp1 a0001 c0005 t0003 g0004 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03516 hp2 a0001 c0005 t0025 g0240 AFR ESN SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03540 hp1 a0001 c0019 t0012 g0252 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03540 hp2 a0001 c0005 t0031 g0187 AFR GWD SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03579 hp1 a0001 c0005 t0008 g0062 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03579 hp2 a0001 c0003 t0003 g0113 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03654 hp1 a0001 c0016 t0005 g0064 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03654 hp2 a0001 c0002 t0048 g0025 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03669 hp1 a0001 c0002 t0006 g0313 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03669 hp2 a0001 c0001 t0014 g0282 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03688 hp1 a0009 c0022 t0051 g0078 SAS STU SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03688 hp2 a0001 c0004 t0010 g0348 SAS STU SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03704 hp1 a0001 c0002 t0001 g0077 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03704 hp2 a0001 c0001 t0005 g0322 SAS PJL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03831 hp1 a0001 c0003 t0032 g0321 SAS BEB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03831 hp2 a0001 c0001 t0005 g0342 SAS BEB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03927 hp1 a0001 c0004 t0010 g0175 SAS BEB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03927 hp2 a0001 c0001 t0005 g0106 SAS BEB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03942 hp1 a0001 c0017 t0002 g0165 SAS BEB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03942 hp2 a0001 c0016 t0005 g0099 SAS BEB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG04115 hp1 a0001 c0002 t0001 g0065 SAS STU SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG04115 hp2 a0001 c0011 t0003 g0268 SAS STU SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG04184 hp1 a0001 c0004 t0004 g0317 SAS BEB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG04184 hp2 a0001 c0001 t0022 g0164 SAS BEB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG04204 hp1 a0002 c0006 t0003 g0200 SAS STU SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG04204 hp2 a0001 c0001 t0005 g0221 SAS STU SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG04228 hp1 a0002 c0006 t0003 g0014 SAS STU SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG04228 hp2 a0001 c0017 t0002 g0226 SAS STU SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18522 hp1 a0001 c0005 t0008 g0049 AFR YRI SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18522 hp2 a0001 c0005 t0003 g0047 AFR YRI SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18612 hp1 a0001 c0002 t0001 g0117 EAS CHB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18612 hp2 a0001 c0001 t0002 g0007 EAS CHB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18906 hp1 a0001 c0013 t0015 g0258 AFR YRI SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18906 hp2 a0001 c0003 t0027 g0053 AFR YRI SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18940 hp1 a0001 c0003 t0009 g0236 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18940 hp2 a0001 c0004 t0004 g0201 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18941 hp1 a0001 c0010 t0002 g0140 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18941 hp2 a0001 c0003 t0009 g0227 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18944 hp1 a0001 c0001 t0002 g0084 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18944 hp2 a0001 c0002 t0001 g0146 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18945 hp1 a0002 c0006 t0003 g0141 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18945 hp2 a0001 c0004 t0004 g0193 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18946 hp1 a0001 c0001 t0002 g0169 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18946 hp2 a0001 c0021 t0001 g0197 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18950 hp1 a0001 c0003 t0004 g0024 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18950 hp2 a0001 c0001 t0002 g0120 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18951 hp1 a0001 c0002 t0006 g0271 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18951 hp2 a0001 c0001 t0044 g0297 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18952 hp1 a0001 c0001 t0004 g0145 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18952 hp2 a0001 c0001 t0002 g0219 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18954 hp1 a0001 c0001 t0002 g0293 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18954 hp2 a0001 c0003 t0009 g0233 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18956 hp1 a0001 c0001 t0002 g0128 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18956 hp2 a0001 c0007 t0001 g0119 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18957 hp1 a0001 c0004 t0004 g0194 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18957 hp2 a0002 c0006 t0003 g0178 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18959 hp1 a0001 c0001 t0002 g0020 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18959 hp2 a0001 c0002 t0001 g0324 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18962 hp1 a0005 c0028 t0001 g0006 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18962 hp2 a0001 c0001 t0002 g0208 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18963 hp1 a0001 c0002 t0001 g0331 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18963 hp2 a0001 c0001 t0002 g0085 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18964 hp1 a0001 c0001 t0002 g0123 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18964 hp2 a0001 c0002 t0001 g0115 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18968 hp1 a0001 c0001 t0002 g0079 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18968 hp2 a0001 c0002 t0006 g0328 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18969 hp1 a0001 c0002 t0001 g0325 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18969 hp2 a0001 c0001 t0020 g0032 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18970 hp1 a0001 c0010 t0002 g0199 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18970 hp2 a0001 c0002 t0001 g0124 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18971 hp1 a0001 c0002 t0006 g0323 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18971 hp2 a0001 c0001 t0002 g0215 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18974 hp1 a0002 c0006 t0003 g0184 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18974 hp2 a0001 c0001 t0020 g0022 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18977 hp1 a0001 c0014 t0037 g0011 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18977 hp2 a0001 c0001 t0005 g0211 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18978 hp1 a0001 c0001 t0002 g0217 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18978 hp2 a0001 c0002 t0001 g0086 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18979 hp1 a0001 c0001 t0004 g0093 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18979 hp2 a0001 c0001 t0002 g0316 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18982 hp1 a0007 c0024 t0009 g0232 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18982 hp2 a0001 c0001 t0002 g0095 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18983 hp1 a0001 c0002 t0001 g0010 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18983 hp2 a0001 c0001 t0005 g0203 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18985 hp1 a0001 c0001 t0002 g0017 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18985 hp2 a0001 c0014 t0001 g0013 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18986 hp1 a0001 c0003 t0003 g0073 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18986 hp2 a0001 c0002 t0001 g0083 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18987 hp1 a0001 c0002 t0006 g0089 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18987 hp2 a0001 c0004 t0004 g0202 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18989 hp1 a0002 c0006 t0003 g0179 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18989 hp2 a0001 c0002 t0001 g0121 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18990 hp1 a0001 c0001 t0005 g0343 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18990 hp2 a0001 c0004 t0004 g0107 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18992 hp1 a0001 c0001 t0007 g0296 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18992 hp2 a0001 c0002 t0001 g0310 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18993 hp1 a0001 c0004 t0004 g0195 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18993 hp2 a0001 c0002 t0001 g0330 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18994 hp1 a0001 c0001 t0007 g0347 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18994 hp2 a0002 c0006 t0003 g0151 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18998 hp1 a0001 c0002 t0001 g0308 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18998 hp2 a0001 c0001 t0002 g0035 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19000 hp1 a0001 c0001 t0005 g0309 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19000 hp2 a0001 c0004 t0004 g0277 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19001 hp1 a0001 c0002 t0001 g0326 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19001 hp2 a0001 c0001 t0018 g0127 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19002 hp1 a0001 c0002 t0001 g0333 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19002 hp2 a0001 c0001 t0022 g0118 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19005 hp1 a0002 c0006 t0003 g0188 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19005 hp2 a0004 c0032 t0004 g0329 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19010 hp1 a0001 c0001 t0005 g0126 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19010 hp2 a0001 c0002 t0004 g0101 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19012 hp1 a0001 c0001 t0002 g0030 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19012 hp2 a0001 c0001 t0007 g0270 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19030 hp1 a0001 c0012 t0016 g0135 AFR LWK SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19030 hp2 a0001 c0008 t0005 g0244 AFR LWK SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19043 hp1 a0001 c0005 t0003 g0190 AFR LWK SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19043 hp2 a0001 c0003 t0003 g0138 AFR LWK SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19054 hp1 a0001 c0001 t0002 g0094 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19054 hp2 a0001 c0001 t0001 g0087 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19055 hp1 a0001 c0004 t0004 g0218 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19055 hp2 a0001 c0001 t0002 g0090 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19056 hp1 a0001 c0007 t0001 g0222 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19056 hp2 a0001 c0003 t0009 g0235 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19058 hp1 a0001 c0001 t0002 g0349 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19058 hp2 a0001 c0014 t0001 g0029 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19062 hp1 a0001 c0001 t0004 g0143 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19062 hp2 a0001 c0003 t0009 g0234 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19064 hp1 a0001 c0002 t0046 g0332 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19064 hp2 a0001 c0004 t0004 g0358 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19065 hp1 a0001 c0002 t0006 g0327 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19065 hp2 a0001 c0001 t0004 g0001 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19066 hp1 a0001 c0001 t0020 g0023 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19066 hp2 a0001 c0001 t0004 g0130 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19067 hp1 a0001 c0003 t0009 g0237 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19067 hp2 a0001 c0001 t0004 g0092 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19068 hp1 a0001 c0002 t0001 g0359 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19068 hp2 a0001 c0001 t0004 g0213 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19074 hp1 a0001 c0001 t0005 g0206 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19074 hp2 a0001 c0002 t0001 g0009 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19076 hp1 a0001 c0001 t0002 g0216 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19076 hp2 a0001 c0002 t0001 g0334 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19079 hp1 a0001 c0001 t0004 g0142 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19079 hp2 a0001 c0001 t0002 g0301 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19081 hp1 a0001 c0007 t0001 g0192 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19081 hp2 a0001 c0001 t0002 g0239 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19082 hp1 a0001 c0002 t0001 g0028 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19082 hp2 a0001 c0004 t0004 g0209 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19083 hp1 a0001 c0001 t0002 g0015 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19083 hp2 a0001 c0004 t0004 g0071 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19084 hp1 a0001 c0015 t0002 g0212 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19084 hp2 a0001 c0001 t0007 g0196 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19085 hp1 a0001 c0002 t0001 g0082 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19085 hp2 a0001 c0015 t0002 g0220 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19086 hp1 a0001 c0002 t0001 g0307 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19086 hp2 a0001 c0003 t0033 g0172 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19088 hp1 a0001 c0001 t0004 g0144 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19088 hp2 a0001 c0002 t0001 g0231 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19090 hp1 a0001 c0001 t0002 g0350 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19090 hp2 a0002 c0006 t0003 g0152 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19091 hp1 a0001 c0001 t0004 g0091 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19091 hp2 a0001 c0001 t0002 g0021 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19240 hp1 a0001 c0003 t0027 g0054 AFR YRI SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA19240 hp2 a0001 c0005 t0008 g0050 AFR YRI SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA20129 hp1 a0001 c0004 t0035 g0042 AFR ASW SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA20129 hp2 a0001 c0008 t0026 g0365 AFR ASW SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA20752 hp1 a0001 c0001 t0002 g0210 EUR TSI SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA20752 hp2 a0001 c0002 t0001 g0111 EUR TSI SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA20905 hp1 a0001 c0004 t0010 g0109 SAS GIH SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA20905 hp2 a0001 c0001 t0014 g0104 SAS GIH SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01123 hp1 a0001 c0002 t0006 g0160 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG01123 hp2 a0001 c0001 t0005 g0354 AMR CLM SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02109 hp1 a0001 c0003 t0003 g0036 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02109 hp2 a0001 c0005 t0008 g0368 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02486 hp1 a0001 c0002 t0001 g0312 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02486 hp2 a0001 c0005 t0008 g0041 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02559 hp1 a0001 c0005 t0011 g0038 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG02559 hp2 a0001 c0018 t0042 g0027 AFR ACB SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03471 hp1 a0001 c0005 t0008 g0269 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG03471 hp2 a0001 c0008 t0005 g0243 AFR MSL SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG06807 hp1 a0001 c0001 t0003 g0060 AFR USA SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
HG06807 hp2 a0001 c0029 t0007 g0290 AFR USA SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18955 hp1 a0003 c0031 t0004 g0063 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA18955 hp2 a0002 c0006 t0003 g0185 EAS JPT SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA20300 hp1 a0001 c0001 t0019 g0031 AFR USA SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA20300 hp2 a0001 c0003 t0003 g0139 AFR USA SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA21309 hp1 a0001 c0001 t0050 g0242 AFR LWK SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
NA21309 hp2 a0001 c0005 t0003 g0005 AFR LWK SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
homoSapiens_chm13v2 hp1 a0001 c0001 t0005 g0291 REF REF SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446
homoSapiens_grch38 hp1 a0001 c0001 t0038 g0340 REF REF SPTBN1_chr2_54451327_54676446 SPTBN1 chr2 54451327 54676446

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
chr2:54625950 C
C
 A
A
 1 a0003
a0003
 1 NA18955.hp1
NA18955.hp1
 missense_variant MODERATE c.1360C>A
c.1360C>A
 p.Leu454Ile
p.Leu454Ile
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/36 1599/10211 1360/7095 454/2364 chr2 54625950
chr2:54626080 A
A
 G
G
 1 a0010
a0010
 1 HG02040.hp1
HG02040.hp1
 missense_variant MODERATE c.1490A>G
c.1490A>G
 p.Lys497Arg
p.Lys497Arg
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/36 1729/10211 1490/7095 497/2364 chr2 54626080
chr2:54631116 G
G
 T
T
 2 a0002
a0004
a0002
a0004
 12 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(9): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19090.hp2
 missense_variant MODERATE c.3069G>T
c.3069G>T
 p.Glu1023Asp
p.Glu1023Asp
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3308/10211 3069/7095 1023/2364 chr2 54631116
chr2:54631162 G
G
 A
A
 1 a0009
a0009
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.3115G>A
c.3115G>A
 p.Glu1039Lys
p.Glu1039Lys
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3354/10211 3115/7095 1039/2364 chr2 54631162
chr2:54631513 A
A
 G
G
 1 a0005
a0005
 1 NA18962.hp1
NA18962.hp1
 missense_variant MODERATE c.3466A>G
c.3466A>G
 p.Lys1156Glu
p.Lys1156Glu
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3705/10211 3466/7095 1156/2364 chr2 54631513
chr2:54632678 A
A
 G
G
 1 a0004
a0004
 1 NA19005.hp2
NA19005.hp2
 missense_variant MODERATE c.3677A>G
c.3677A>G
 p.Asn1226Ser
p.Asn1226Ser
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/36 3916/10211 3677/7095 1226/2364 chr2 54632678
chr2:54643104 A
A
 G
G
 1 a0008
a0008
 1 HG02717.hp2
HG02717.hp2
 missense_variant MODERATE c.3980A>G
c.3980A>G
 p.Lys1327Arg
p.Lys1327Arg
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/36 4219/10211 3980/7095 1327/2364 chr2 54643104
chr2:54643124 G
G
 A
A
 1 a0007
a0007
 1 NA18982.hp1
NA18982.hp1
 missense_variant MODERATE c.4000G>A
c.4000G>A
 p.Glu1334Lys
p.Glu1334Lys
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/36 4239/10211 4000/7095 1334/2364 chr2 54643124
chr2:54649941 G
G
 C
C
 1 a0004
a0004
 1 NA19005.hp2
NA19005.hp2
 missense_variant MODERATE c.5529G>C
c.5529G>C
 p.Gln1843His
p.Gln1843His
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/36 5768/10211 5529/7095 1843/2364 chr2 54649941
chr2:54668450 G
G
 A
A
 1 a0006
a0006
 1 HG00423.hp1
HG00423.hp1
 missense_variant MODERATE c.6976G>A
c.6976G>A
 p.Ala2326Thr
p.Ala2326Thr
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 7215/10211 6976/7095 2326/2364 chr2 54668450

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
chr2:54599189 T
T
 G
G
 1 a0001c0020
a0001c0020
 1 HG02040.hp2
HG02040.hp2
 synonymous_variant LOW c.246T>G
c.246T>G
 p.Leu82Leu
p.Leu82Leu
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/36 485/10211 246/7095 82/2364 chr2 54599189
chr2:54612196 C
C
 T
T
 1 a0010c0034
a0010c0034
 1 HG02040.hp1
HG02040.hp1
 synonymous_variant LOW c.336C>T
c.336C>T
 p.Cys112Cys
p.Cys112Cys
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/36 575/10211 336/7095 112/2364 chr2 54612196
chr2:54617653 C
C
 T
T
 4 a0001c0004
a0001c0033
a0003c0031
others(1): Show 
a0001c0004
a0001c0033
a0003c0031
a0004c0032
 41 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(38): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 synonymous_variant LOW c.612C>T
c.612C>T
 p.Asp204Asp
p.Asp204Asp
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/36 851/10211 612/7095 204/2364 chr2 54617653
chr2:54622371 A
A
 G
G
 4 a0001c0005
a0001c0013
a0001c0019
others(1): Show 
a0001c0005
a0001c0013
a0001c0019
a0008c0030
 36 HG01109.hp2
HG01346.hp2
HG02109.hp2
others(33): Show 
HG01109.hp2
HG01346.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp2
 synonymous_variant LOW c.948A>G
c.948A>G
 p.Glu316Glu
p.Glu316Glu
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/36 1187/10211 948/7095 316/2364 chr2 54622371
chr2:54626060 C
C
 T
T
 1 a0001c0012
a0001c0012
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 synonymous_variant LOW c.1470C>T
c.1470C>T
 p.Ala490Ala
p.Ala490Ala
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/36 1709/10211 1470/7095 490/2364 chr2 54626060
chr2:54629270 G
G
 A
A
 1 a0001c0015
a0001c0015
 2 NA19084.hp1
NA19085.hp2
NA19084.hp1
NA19085.hp2
 synonymous_variant LOW c.2136G>A
c.2136G>A
 p.Ser712Ser
p.Ser712Ser
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 14/36 2375/10211 2136/7095 712/2364 chr2 54629270
chr2:54629678 T
T
 G
G
 1 a0001c0021
a0001c0021
 1 NA18946.hp2
NA18946.hp2
 synonymous_variant LOW c.2544T>G
c.2544T>G
 p.Thr848Thr
p.Thr848Thr
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 14/36 2783/10211 2544/7095 848/2364 chr2 54629678
chr2:54631017 C
C
 T
T
 1 a0001c0033
a0001c0033
 1 HG01981.hp1
HG01981.hp1
 synonymous_variant LOW c.2970C>T
c.2970C>T
 p.Gly990Gly
p.Gly990Gly
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3209/10211 2970/7095 990/2364 chr2 54631017
chr2:54631056 G
G
 C
C
 2 a0002c0006
a0004c0032
a0002c0006
a0004c0032
 12 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(9): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19090.hp2
 synonymous_variant LOW c.3009G>C
c.3009G>C
 p.Arg1003Arg
p.Arg1003Arg
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3248/10211 3009/7095 1003/2364 chr2 54631056
chr2:54631077 A
A
 G
G
 1 a0001c0011
a0001c0011
 5 HG00140.hp2
HG00280.hp1
HG01168.hp2
others(2): Show 
HG00140.hp2
HG00280.hp1
HG01168.hp2
HG02738.hp1
HG04115.hp2
 synonymous_variant LOW c.3030A>G
c.3030A>G
 p.Ala1010Ala
p.Ala1010Ala
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3269/10211 3030/7095 1010/2364 chr2 54631077
chr2:54631302 C
C
 T
T
 3 a0001c0009
a0001c0018
a0001c0029
a0001c0009
a0001c0018
a0001c0029
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 synonymous_variant LOW c.3255C>T
c.3255C>T
 p.Ile1085Ile
p.Ile1085Ile
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3494/10211 3255/7095 1085/2364 chr2 54631302
chr2:54631374 C
C
 T
T
 6 a0001c0002
a0001c0014
a0001c0018
others(3): Show 
a0001c0002
a0001c0014
a0001c0018
a0001c0021
a0005c0028
a0010c0034
 79 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(76): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02698.hp1
HG02976.hp2
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 synonymous_variant LOW c.3327C>T
c.3327C>T
 p.Asn1109Asn
p.Asn1109Asn
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3566/10211 3327/7095 1109/2364 chr2 54631374
chr2:54631527 C
C
 T
T
 6 a0001c0003
a0001c0011
a0001c0025
others(3): Show 
a0001c0003
a0001c0011
a0001c0025
a0001c0026
a0006c0027
a0007c0024
 47 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 synonymous_variant LOW c.3480C>T
c.3480C>T
 p.Asn1160Asn
p.Asn1160Asn
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3719/10211 3480/7095 1160/2364 chr2 54631527
chr2:54631590 C
C
 G
G
 1 a0001c0029
a0001c0029
 1 HG06807.hp2
HG06807.hp2
 synonymous_variant LOW c.3543C>G
c.3543C>G
 p.Ala1181Ala
p.Ala1181Ala
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/36 3782/10211 3543/7095 1181/2364 chr2 54631590
chr2:54644382 C
C
 T
T
 2 a0002c0006
a0004c0032
a0002c0006
a0004c0032
 12 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(9): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19090.hp2
 synonymous_variant LOW c.4065C>T
c.4065C>T
 p.Leu1355Leu
p.Leu1355Leu
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 20/36 4304/10211 4065/7095 1355/2364 chr2 54644382
chr2:54644508 C
C
 T
T
 1 a0001c0017
a0001c0017
 2 HG03942.hp1
HG04228.hp2
HG03942.hp1
HG04228.hp2
 synonymous_variant LOW c.4191C>T
c.4191C>T
 p.His1397His
p.His1397His
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 20/36 4430/10211 4191/7095 1397/2364 chr2 54644508
chr2:54645345 C
C
 T
T
 1 a0001c0023
a0001c0023
 1 HG01517.hp1
HG01517.hp1
 synonymous_variant LOW c.4386C>T
c.4386C>T
 p.Thr1462Thr
p.Thr1462Thr
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 21/36 4625/10211 4386/7095 1462/2364 chr2 54645345
chr2:54649653 C
C
 T
T
 1 a0001c0016
a0001c0016
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 synonymous_variant LOW c.5241C>T
c.5241C>T
 p.Thr1747Thr
p.Thr1747Thr
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/36 5480/10211 5241/7095 1747/2364 chr2 54649653
chr2:54653761 A
A
 G
G
 1 a0001c0014
a0001c0014
 3 NA18977.hp1
NA18985.hp2
NA19058.hp2
NA18977.hp1
NA18985.hp2
NA19058.hp2
 synonymous_variant LOW c.5730A>G
c.5730A>G
 p.Thr1910Thr
p.Thr1910Thr
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/36 5969/10211 5730/7095 1910/2364 chr2 54653761
chr2:54655154 C
C
 A
A
 3 a0001c0009
a0001c0018
a0001c0029
a0001c0009
a0001c0018
a0001c0029
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 synonymous_variant LOW c.5907C>A
c.5907C>A
 p.Thr1969Thr
p.Thr1969Thr
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 28/36 6146/10211 5907/7095 1969/2364 chr2 54655154
chr2:54655940 G
G
 A
A
 1 a0001c0017
a0001c0017
 2 HG03942.hp1
HG04228.hp2
HG03942.hp1
HG04228.hp2
 synonymous_variant LOW c.5988G>A
c.5988G>A
 p.Thr1996Thr
p.Thr1996Thr
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/36 6227/10211 5988/7095 1996/2364 chr2 54655940
chr2:54657887 G
G
 A
A
 1 a0001c0025
a0001c0025
 1 HG00609.hp2
HG00609.hp2
 synonymous_variant LOW c.6084G>A
c.6084G>A
 p.Val2028Val
p.Val2028Val
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 30/36 6323/10211 6084/7095 2028/2364 chr2 54657887
chr2:54659210 G
G
 A
A
 9 a0001c0002
a0001c0007
a0001c0012
others(6): Show 
a0001c0002
a0001c0007
a0001c0012
a0001c0014
a0001c0019
a0001c0021
a0001c0026
a0005c0028
a0010c0034
 94 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(91): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03491.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 synonymous_variant LOW c.6300G>A
c.6300G>A
 p.Pro2100Pro
p.Pro2100Pro
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 31/36 6539/10211 6300/7095 2100/2364 chr2 54659210
chr2:54664623 G
G
 A
A
 1 a0001c0010
a0001c0010
 5 HG00735.hp2
HG01978.hp1
HG02293.hp1
others(2): Show 
HG00735.hp2
HG01978.hp1
HG02293.hp1
NA18941.hp1
NA18970.hp1
 synonymous_variant LOW c.6591G>A
c.6591G>A
 p.Ser2197Ser
p.Ser2197Ser
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/36 6830/10211 6591/7095 2197/2364 chr2 54664623
chr2:54666086 A
A
 G
G
 1 a0008c0030
a0008c0030
 1 HG02717.hp2
HG02717.hp2
 splice_region_variant&synonymous_variant LOW c.6831A>G
c.6831A>G
 p.Leu2277Leu
p.Leu2277Leu
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/36 7070/10211 6831/7095 2277/2364 chr2 54666086
chr2:54668545 C
C
 T
T
 2 a0001c0008
a0001c0013
a0001c0008
a0001c0013
 13 HG01346.hp2
HG02055.hp1
HG02257.hp2
others(10): Show 
HG01346.hp2
HG02055.hp1
HG02257.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 synonymous_variant LOW c.7071C>T
c.7071C>T
 p.Phe2357Phe
p.Phe2357Phe
 SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 7310/10211 7071/7095 2357/2364 chr2 54668545

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
chr2:54456363 C
C
 G
G
 1 a0009c0022t0051
a0009c0022t0051
 1 HG03688.hp1
HG03688.hp1
 5_prime_UTR_variant MODIFIER c.-203C>G
c.-203C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/36 70056 chr2 54456363
chr2:54456450 C
C
 T
T
 1 a0001c0001t0020
a0001c0001t0020
 3 NA18969.hp2
NA18974.hp2
NA19066.hp1
NA18969.hp2
NA18974.hp2
NA19066.hp1
 5_prime_UTR_variant MODIFIER c.-116C>T
c.-116C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/36 69969 chr2 54456450
chr2:54668680 AT
AT
 A
A
 4 a0001c0001t0010
a0001c0001t0022
a0001c0004t0010
others(1): Show 
a0001c0001t0010
a0001c0001t0022
a0001c0004t0010
a0001c0009t0010
 8 HG02145.hp1
HG02970.hp1
HG03491.hp1
others(5): Show 
HG02145.hp1
HG02970.hp1
HG03491.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp2
NA19002.hp2
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*126delT
c.*126delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 126 INFO_REALIGN_3_PRIME chr2 54668680
chr2:54668683 T
T
 TA
TA
 6 a0001c0005t0008
a0001c0005t0011
a0001c0005t0012
others(3): Show 
a0001c0005t0008
a0001c0005t0011
a0001c0005t0012
a0001c0005t0021
a0001c0005t0031
a0001c0019t0012
 20 HG01109.hp2
HG02109.hp2
HG02258.hp1
others(17): Show 
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*114_*115insA
c.*114_*115insA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 115 chr2 54668683
chr2:54668684 T
T
 A
A
 1 a0008c0030t0030
a0008c0030t0030
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*115T>A
c.*115T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 115 chr2 54668684
chr2:54668714 G
G
 T
T
 4 a0001c0001t0019
a0001c0001t0049
a0001c0001t0050
others(1): Show 
a0001c0001t0019
a0001c0001t0049
a0001c0001t0050
a0001c0012t0016
 9 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(6): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*145G>T
c.*145G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 145 chr2 54668714
chr2:54668788 AT
AT
 A
A
 17 a0001c0001t0003
a0001c0003t0003
a0001c0003t0009
others(14): Show 
a0001c0001t0003
a0001c0003t0003
a0001c0003t0009
a0001c0003t0024
a0001c0003t0032
a0001c0003t0033
a0001c0003t0036
a0001c0004t0035
a0001c0005t0003
a0001c0005t0011
a0001c0005t0034
a0001c0011t0003
a0001c0011t0023
a0001c0025t0003
a0002c0006t0003
a0006c0027t0003
a0007c0024t0009
 71 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(68): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*229delT
c.*229delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 229 INFO_REALIGN_3_PRIME chr2 54668788
chr2:54668903 G
G
 A
A
 1 a0001c0001t0049
a0001c0001t0049
 1 HG00738.hp1
HG00738.hp1
 3_prime_UTR_variant MODIFIER c.*334G>A
c.*334G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 334 chr2 54668903
chr2:54668909 TAATC
TAATC
 T
T
 1 a0001c0007t0013
a0001c0007t0013
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 3_prime_UTR_variant MODIFIER c.*344_*347delCAAT
c.*344_*347delCAAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 344 INFO_REALIGN_3_PRIME chr2 54668909
chr2:54669046 G
G
 A
A
 1 a0001c0003t0032
a0001c0003t0032
 1 HG03831.hp1
HG03831.hp1
 3_prime_UTR_variant MODIFIER c.*477G>A
c.*477G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 477 chr2 54669046
chr2:54669163 C
C
 T
T
 1 a0001c0003t0036
a0001c0003t0036
 1 HG02698.hp2
HG02698.hp2
 3_prime_UTR_variant MODIFIER c.*594C>T
c.*594C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 594 chr2 54669163
chr2:54669173 G
G
 A
A
 6 a0001c0005t0008
a0001c0005t0011
a0001c0005t0012
others(3): Show 
a0001c0005t0008
a0001c0005t0011
a0001c0005t0012
a0001c0005t0021
a0001c0005t0025
a0001c0019t0012
 21 HG01109.hp2
HG02109.hp2
HG02258.hp1
others(18): Show 
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*604G>A
c.*604G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 604 chr2 54669173
chr2:54669240 A
A
 AT
AT
 22 a0001c0001t0003
a0001c0001t0005
a0001c0001t0019
others(19): Show 
a0001c0001t0003
a0001c0001t0005
a0001c0001t0019
a0001c0001t0039
a0001c0001t0050
a0001c0002t0005
a0001c0003t0003
a0001c0003t0009
a0001c0003t0024
a0001c0003t0032
a0001c0003t0033
a0001c0003t0036
a0001c0005t0003
a0001c0008t0005
a0001c0011t0003
a0001c0012t0016
a0001c0016t0005
a0001c0023t0005
a0001c0025t0003
a0002c0006t0003
a0006c0027t0003
a0007c0024t0009
 101 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(98): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18977.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp1
NA18994.hp2
NA19000.hp1
NA19005.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19074.hp1
NA19086.hp2
NA19090.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*683dupT
c.*683dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 684 INFO_REALIGN_3_PRIME chr2 54669240
chr2:54669240 A
A
 ATT
ATT
 20 a0001c0001t0002
a0001c0001t0014
a0001c0001t0018
others(17): Show 
a0001c0001t0002
a0001c0001t0014
a0001c0001t0018
a0001c0001t0020
a0001c0001t0022
a0001c0001t0040
a0001c0001t0041
a0001c0001t0049
a0001c0004t0002
a0001c0005t0012
a0001c0005t0025
a0001c0005t0034
a0001c0009t0002
a0001c0010t0002
a0001c0010t0017
a0001c0015t0002
a0001c0017t0002
a0001c0019t0012
a0001c0020t0002
a0009c0022t0051
 78 HG00408.hp2
HG00423.hp2
HG00558.hp1
others(75): Show 
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp2
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01943.hp1
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02258.hp1
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02738.hp2
HG02818.hp1
HG02922.hp1
HG03130.hp2
HG03195.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp1
HG04184.hp2
HG04228.hp2
NA18612.hp2
NA18941.hp1
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18985.hp1
NA18998.hp2
NA19001.hp2
NA19002.hp2
NA19012.hp1
NA19054.hp1
NA19055.hp2
NA19058.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp2
NA20752.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*682_*683dupTT
c.*682_*683dupTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 684 INFO_REALIGN_3_PRIME chr2 54669240
chr2:54669240 A
A
 ATTT
ATTT
 27 a0001c0001t0004
a0001c0001t0007
a0001c0001t0010
others(24): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0010
a0001c0001t0044
a0001c0002t0004
a0001c0002t0006
a0001c0003t0004
a0001c0003t0027
a0001c0004t0004
a0001c0004t0007
a0001c0004t0010
a0001c0005t0008
a0001c0005t0031
a0001c0005t0043
a0001c0007t0013
a0001c0008t0026
a0001c0009t0007
a0001c0009t0010
a0001c0009t0045
a0001c0013t0015
a0001c0018t0007
a0001c0018t0042
a0001c0026t0006
a0001c0029t0007
a0001c0033t0007
a0003c0031t0004
a0004c0032t0004
 118 HG00323.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02071.hp1
HG02080.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18968.hp2
NA18971.hp1
NA18979.hp1
NA18987.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*681_*683dupTTT
c.*681_*683dupTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 684 INFO_REALIGN_3_PRIME chr2 54669240
chr2:54669240 A
A
 ATTTT
ATTTT
 16 a0001c0001t0001
a0001c0001t0029
a0001c0002t0001
others(13): Show 
a0001c0001t0001
a0001c0001t0029
a0001c0002t0001
a0001c0002t0028
a0001c0002t0029
a0001c0002t0046
a0001c0002t0047
a0001c0002t0048
a0001c0004t0035
a0001c0005t0011
a0001c0005t0021
a0001c0007t0001
a0001c0014t0001
a0001c0021t0001
a0005c0028t0001
a0010c0034t0001
 68 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(65): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01433.hp1
HG02004.hp2
HG02040.hp1
HG02080.hp2
HG02083.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03654.hp2
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp1
NA18970.hp2
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20129.hp1
NA20752.hp2
 3_prime_UTR_variant MODIFIER c.*680_*683dupTTTT
c.*680_*683dupTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 684 INFO_REALIGN_3_PRIME chr2 54669240
chr2:54669298 G
G
 A
A
 1 a0001c0001t0040
a0001c0001t0040
 1 HG01346.hp1
HG01346.hp1
 3_prime_UTR_variant MODIFIER c.*729G>A
c.*729G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 729 chr2 54669298
chr2:54669410 G
G
 T
T
 1 a0001c0002t0048
a0001c0002t0048
 1 HG03654.hp2
HG03654.hp2
 3_prime_UTR_variant MODIFIER c.*841G>T
c.*841G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 841 chr2 54669410
chr2:54669582 G
G
 A
A
 1 a0001c0007t0013
a0001c0007t0013
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 3_prime_UTR_variant MODIFIER c.*1013G>A
c.*1013G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1013 chr2 54669582
chr2:54669651 A
A
 G
G
 1 a0001c0009t0045
a0001c0009t0045
 1 HG01978.hp2
HG01978.hp2
 3_prime_UTR_variant MODIFIER c.*1082A>G
c.*1082A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1082 chr2 54669651
chr2:54669697 C
C
 A
A
 1 a0001c0004t0035
a0001c0004t0035
 1 NA20129.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*1128C>A
c.*1128C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1128 chr2 54669697
chr2:54669840 G
G
 A
A
 1 a0001c0002t0046
a0001c0002t0046
 1 NA19064.hp1
NA19064.hp1
 3_prime_UTR_variant MODIFIER c.*1271G>A
c.*1271G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1271 chr2 54669840
chr2:54669977 A
A
 G
G
 1 a0001c0001t0039
a0001c0001t0039
 1 HG02622.hp1
HG02622.hp1
 3_prime_UTR_variant MODIFIER c.*1408A>G
c.*1408A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1408 chr2 54669977
chr2:54669988 C
C
 A
A
 13 a0001c0001t0001
a0001c0002t0001
a0001c0002t0006
others(10): Show 
a0001c0001t0001
a0001c0002t0001
a0001c0002t0006
a0001c0002t0028
a0001c0002t0046
a0001c0002t0048
a0001c0007t0001
a0001c0014t0001
a0001c0014t0037
a0001c0021t0001
a0001c0026t0006
a0005c0028t0001
a0010c0034t0001
 82 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(79): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 3_prime_UTR_variant MODIFIER c.*1419C>A
c.*1419C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1419 chr2 54669988
chr2:54669995 G
G
 A
A
 2 a0001c0001t0019
a0001c0001t0049
a0001c0001t0019
a0001c0001t0049
 4 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(1): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*1426G>A
c.*1426G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1426 chr2 54669995
chr2:54670058 A
A
 T
T
 1 a0001c0012t0016
a0001c0012t0016
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 3_prime_UTR_variant MODIFIER c.*1489A>T
c.*1489A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1489 chr2 54670058
chr2:54670071 G
G
 A
A
 1 a0001c0010t0017
a0001c0010t0017
 3 HG00735.hp2
HG01978.hp1
HG02293.hp1
HG00735.hp2
HG01978.hp1
HG02293.hp1
 3_prime_UTR_variant MODIFIER c.*1502G>A
c.*1502G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1502 chr2 54670071
chr2:54670412 A
A
 T
T
 1 a0008c0030t0030
a0008c0030t0030
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*1843A>T
c.*1843A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1843 chr2 54670412
chr2:54670501 C
C
 G
G
 3 a0001c0001t0014
a0001c0001t0041
a0009c0022t0051
a0001c0001t0014
a0001c0001t0041
a0009c0022t0051
 6 HG01261.hp1
HG02738.hp2
HG03490.hp1
others(3): Show 
HG01261.hp1
HG02738.hp2
HG03490.hp1
HG03669.hp2
HG03688.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*1932C>G
c.*1932C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1932 chr2 54670501
chr2:54670520 G
G
 A
A
 2 a0001c0008t0026
a0001c0013t0015
a0001c0008t0026
a0001c0013t0015
 6 HG01346.hp2
HG02257.hp2
HG03130.hp1
others(3): Show 
HG01346.hp2
HG02257.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*1951G>A
c.*1951G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1951 chr2 54670520
chr2:54670546 A
A
 G
G
 1 a0001c0002t0028
a0001c0002t0028
 2 HG00280.hp2
HG00323.hp2
HG00280.hp2
HG00323.hp2
 3_prime_UTR_variant MODIFIER c.*1977A>G
c.*1977A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 1977 chr2 54670546
chr2:54670687 C
C
 T
T
 1 a0001c0003t0027
a0001c0003t0027
 2 NA18906.hp2
NA19240.hp1
NA18906.hp2
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*2118C>T
c.*2118C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2118 chr2 54670687
chr2:54670697 A
A
 G
G
 1 a0001c0001t0044
a0001c0001t0044
 1 NA18951.hp2
NA18951.hp2
 3_prime_UTR_variant MODIFIER c.*2128A>G
c.*2128A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2128 chr2 54670697
chr2:54670745 C
C
 T
T
 2 a0001c0004t0035
a0001c0005t0011
a0001c0004t0035
a0001c0005t0011
 5 HG02559.hp1
HG02572.hp1
HG03209.hp2
others(2): Show 
HG02559.hp1
HG02572.hp1
HG03209.hp2
HG03453.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*2176C>T
c.*2176C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2176 chr2 54670745
chr2:54670792 CTT
CTT
 C
C
 1 a0001c0013t0015
a0001c0013t0015
 4 HG01346.hp2
HG03130.hp1
HG03209.hp1
others(1): Show 
HG01346.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2224_*2225delTT
c.*2224_*2225delTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2224 chr2 54670792
chr2:54670816 C
C
 T
T
 2 a0001c0003t0024
a0001c0003t0032
a0001c0003t0024
a0001c0003t0032
 3 HG03490.hp2
HG03492.hp1
HG03831.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp1
 3_prime_UTR_variant MODIFIER c.*2247C>T
c.*2247C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2247 chr2 54670816
chr2:54670921 T
T
 C
C
 1 a0001c0018t0042
a0001c0018t0042
 1 HG02559.hp2
HG02559.hp2
 3_prime_UTR_variant MODIFIER c.*2352T>C
c.*2352T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2352 chr2 54670921
chr2:54670958 G
G
 T
T
 8 a0001c0004t0035
a0001c0005t0008
a0001c0005t0011
others(5): Show 
a0001c0004t0035
a0001c0005t0008
a0001c0005t0011
a0001c0005t0012
a0001c0005t0021
a0001c0005t0025
a0001c0005t0043
a0001c0019t0012
 23 HG01109.hp2
HG02109.hp2
HG02258.hp1
others(20): Show 
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*2389G>T
c.*2389G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2389 chr2 54670958
chr2:54670977 A
A
 G
G
 1 a0001c0003t0027
a0001c0003t0027
 2 NA18906.hp2
NA19240.hp1
NA18906.hp2
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*2408A>G
c.*2408A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2408 chr2 54670977
chr2:54670978 C
C
 T
T
 10 a0001c0001t0004
a0001c0001t0018
a0001c0002t0004
others(7): Show 
a0001c0001t0004
a0001c0001t0018
a0001c0002t0004
a0001c0002t0047
a0001c0003t0004
a0001c0004t0004
a0001c0008t0026
a0001c0013t0015
a0003c0031t0004
a0004c0032t0004
 55 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(52): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp2
HG02080.hp1
HG02257.hp2
HG02602.hp2
HG02683.hp2
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG03130.hp1
HG03209.hp1
HG04184.hp1
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19010.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*2409C>T
c.*2409C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2409 chr2 54670978
chr2:54671089 C
C
 CTGAAGAG
others(33): Show 
CTGAAGAGTAAGAAGTAGTGAAAATAAGGCTTAGTAAATCT
 1 a0001c0003t0033
a0001c0003t0033
 1 NA19086.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*2553_*2554insTAAA
others(36): Show 
c.*2553_*2554insTAAATCTTGAAGAGTAAGAAGTAGTGAAAATAAG
GCTTAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2554 INFO_REALIGN_3_PRIME chr2 54671089
chr2:54671136 G
G
 C
C
 3 a0001c0003t0009
a0001c0003t0033
a0007c0024t0009
a0001c0003t0009
a0001c0003t0033
a0007c0024t0009
 8 NA18940.hp1
NA18941.hp2
NA18954.hp2
others(5): Show 
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*2567G>C
c.*2567G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2567 chr2 54671136
chr2:54671213 G
G
 A
A
 1 a0001c0001t0041
a0001c0001t0041
 1 HG01261.hp1
HG01261.hp1
 3_prime_UTR_variant MODIFIER c.*2644G>A
c.*2644G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2644 chr2 54671213
chr2:54671434 A
A
 C
C
 3 a0001c0001t0019
a0001c0001t0049
a0001c0001t0050
a0001c0001t0019
a0001c0001t0049
a0001c0001t0050
 5 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(2): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*2865A>C
c.*2865A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 36/36 2865 chr2 54671434

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
chr2:54456574 T
T
 C
C
 306 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(303): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 306 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(303): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+56T>C
c.-48+56T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54456574
chr2:54456617 C
C
 G
G
 2 a0001c0003t0003g0305
a0001c0008t0005g0306
a0001c0003t0003g0305
a0001c0008t0005g0306
 2 HG02055.hp1
HG03098.hp1
HG02055.hp1
HG03098.hp1
 intron_variant MODIFIER c.-48+99C>G
c.-48+99C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54456617
chr2:54456625 G
G
 C
C
 1 a0001c0001t0004g0001
a0001c0001t0004g0001
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.-48+107G>C
c.-48+107G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54456625
chr2:54456798 T
T
 G
G
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.-48+280T>G
c.-48+280T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54456798
chr2:54456857 C
C
 T
T
 2 a0001c0001t0018g0303
a0001c0003t0003g0304
a0001c0001t0018g0303
a0001c0003t0003g0304
 2 HG01884.hp2
HG02055.hp2
HG01884.hp2
HG02055.hp2
 intron_variant MODIFIER c.-48+339C>T
c.-48+339C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54456857
chr2:54456861 G
G
 A
A
 3 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0034g0003
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0034g0003
 3 HG03130.hp2
HG03516.hp1
NA21309.hp2
HG03130.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+343G>A
c.-48+343G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54456861
chr2:54456930 G
G
 GAGCGGAC
GAGCGGAC
 33 a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0005g0291
others(30): Show 
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0005g0291
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0282
a0001c0001t0040g0300
a0001c0001t0044g0297
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0277
a0001c0007t0001g0302
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0045g0298
a0001c0023t0005g0283
a0001c0029t0007g0290
 33 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(30): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01256.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp2
HG01981.hp2
HG02071.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG03491.hp2
HG03492.hp2
HG03669.hp2
HG06807.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18992.hp1
NA19000.hp2
NA19012.hp2
NA19079.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+423_-48+429dup
others(7): Show 
c.-48+423_-48+429dupGGACAGC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54456930
chr2:54456930 GAGCGGAC
GAGCGGAC
 G
G
 40 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
others(37): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0004g0024
a0001c0004t0035g0042
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0021g0040
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0012t0016g0026
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0042g0027
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
a0005c0028t0001g0006
 40 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(37): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03654.hp2
HG04228.hp1
NA18612.hp2
NA18950.hp1
NA18959.hp1
NA18962.hp1
NA18969.hp2
NA18974.hp2
NA18977.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19074.hp2
NA19082.hp1
NA19083.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.-48+423_-48+429del
others(7): Show 
c.-48+423_-48+429delGGACAGC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54456930
chr2:54456969 C
C
 T
T
 1 a0001c0005t0008g0269
a0001c0005t0008g0269
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-48+451C>T
c.-48+451C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54456969
chr2:54456992 G
G
 A
A
 18 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(15): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0039g0058
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0005t0003g0047
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0051
a0001c0005t0021g0052
a0001c0008t0005g0046
 18 HG01167.hp2
HG02451.hp2
HG02572.hp2
others(15): Show 
HG01167.hp2
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02809.hp1
HG02886.hp2
HG02922.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+474G>A
c.-48+474G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54456992
chr2:54457019 G
G
 C
C
 2 a0001c0001t0007g0270
a0001c0002t0006g0271
a0001c0001t0007g0270
a0001c0002t0006g0271
 2 NA18951.hp1
NA19012.hp2
NA18951.hp1
NA19012.hp2
 intron_variant MODIFIER c.-48+501G>C
c.-48+501G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457019
chr2:54457105 G
G
 A
A
 1 a0003c0031t0004g0063
a0003c0031t0004g0063
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.-48+587G>A
c.-48+587G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457105
chr2:54457153 G
G
 GC
GC
 88 a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
others(85): Show 
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0316
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0213
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0309
a0001c0001t0007g0196
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0019g0183
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0032g0321
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0176
a0001c0005t0011g0038
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0043g0039
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0010t0002g0199
a0001c0010t0017g0198
a0001c0011t0003g0228
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0189
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0226
a0001c0021t0001g0197
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0007c0024t0009g0232
a0008c0030t0030g0174
 88 HG00280.hp1
HG00558.hp1
HG00639.hp1
others(85): Show 
HG00280.hp1
HG00558.hp1
HG00639.hp1
HG00735.hp2
HG00741.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG02015.hp2
HG02071.hp2
HG02080.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18946.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18987.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA19000.hp1
NA19005.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19062.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19076.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp2
NA20752.hp1
 intron_variant MODIFIER c.-48+645dupC
c.-48+645dupC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54457153
chr2:54457153 G
G
 GCC
GCC
 48 a0001c0001t0001g0156
a0001c0001t0002g0163
a0001c0001t0002g0167
others(45): Show 
a0001c0001t0001g0156
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0005g0291
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0164
a0001c0001t0040g0300
a0001c0001t0044g0297
a0001c0002t0001g0287
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0003t0003g0292
a0001c0003t0033g0172
a0001c0004t0002g0161
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0007g0173
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0009t0002g0285
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0045g0298
a0001c0010t0017g0162
a0001c0011t0003g0171
a0001c0012t0016g0153
a0001c0017t0002g0165
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0151
a0002c0006t0003g0152
 48 HG00140.hp2
HG00280.hp2
HG00323.hp2
others(45): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp2
HG01517.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02155.hp1
HG02273.hp2
HG02300.hp2
HG02809.hp2
HG03130.hp2
HG03195.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03942.hp1
HG04184.hp2
HG06807.hp2
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18992.hp1
NA18994.hp2
NA19012.hp2
NA19079.hp2
NA19086.hp2
NA19090.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+644_-48+645dup
others(2): Show 
c.-48+644_-48+645dupCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54457153
chr2:54457153 G
G
 GCCC
GCCC
 36 a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
others(33): Show 
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0136
a0001c0001t0014g0282
a0001c0001t0019g0031
a0001c0001t0020g0032
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0047g0279
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0004t0004g0277
a0001c0007t0013g0137
a0001c0009t0007g0280
a0001c0010t0002g0140
a0001c0010t0017g0150
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0014t0001g0029
a0001c0018t0042g0027
a0001c0020t0002g0034
a0002c0006t0003g0141
 36 HG00099.hp2
HG00140.hp1
HG00423.hp2
others(33): Show 
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00735.hp1
HG01106.hp2
HG01433.hp1
HG01981.hp2
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02135.hp1
HG02257.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG03195.hp2
HG03225.hp1
HG03669.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18952.hp1
NA18969.hp2
NA18998.hp2
NA19000.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp2
NA19058.hp2
NA19062.hp1
NA19079.hp1
NA19082.hp1
NA19088.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+643_-48+645dup
others(3): Show 
c.-48+643_-48+645dupCCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54457153
chr2:54457153 G
G
 GCCCC
GCCCC
 45 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
others(42): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0005g0126
a0001c0001t0007g0019
a0001c0001t0018g0127
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0022g0118
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0113
a0001c0003t0004g0024
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0007g0110
a0001c0004t0010g0109
a0001c0007t0001g0119
a0001c0009t0007g0272
a0001c0014t0001g0013
a0001c0014t0037g0011
a0001c0018t0007g0112
a0002c0006t0003g0014
a0002c0006t0003g0016
 45 HG00323.hp1
HG00408.hp2
HG00438.hp2
others(42): Show 
HG00323.hp1
HG00408.hp2
HG00438.hp2
HG00609.hp1
HG01081.hp2
HG01433.hp2
HG02004.hp1
HG02027.hp1
HG02165.hp1
HG02165.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02897.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03579.hp2
HG03654.hp2
HG04228.hp1
NA18612.hp1
NA18950.hp1
NA18950.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18970.hp2
NA18974.hp2
NA18977.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18989.hp2
NA19001.hp2
NA19002.hp2
NA19010.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp2
NA19083.hp1
NA19091.hp2
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.-48+642_-48+645dup
others(4): Show 
c.-48+642_-48+645dupCCCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54457153
chr2:54457153 G
G
 GCCCCC
GCCCCC
 40 a0001c0001t0001g0087
a0001c0001t0002g0007
a0001c0001t0002g0079
others(37): Show 
a0001c0001t0001g0087
a0001c0001t0002g0007
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0005g0106
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0004g0101
a0001c0002t0006g0089
a0001c0003t0003g0304
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0007t0001g0081
a0001c0007t0013g0108
a0001c0008t0005g0306
a0001c0009t0010g0088
a0001c0016t0005g0099
a0001c0026t0006g0102
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 40 HG00408.hp1
HG00438.hp1
HG00558.hp2
others(37): Show 
HG00408.hp1
HG00438.hp1
HG00558.hp2
HG00738.hp1
HG01168.hp1
HG01884.hp2
HG02040.hp1
HG02055.hp1
HG02083.hp1
HG02698.hp1
HG02738.hp2
HG02895.hp1
HG03139.hp2
HG03490.hp1
HG03491.hp1
HG03688.hp1
HG03704.hp1
HG03927.hp2
HG03942.hp2
NA18612.hp2
NA18906.hp2
NA18944.hp1
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp2
NA18986.hp2
NA18987.hp1
NA18990.hp2
NA19010.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19067.hp2
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.-48+641_-48+645dup
others(5): Show 
c.-48+641_-48+645dupCCCCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54457153
chr2:54457153 G
G
 GCCCCCC
GCCCCCC
 21 a0001c0001t0004g0070
a0001c0001t0018g0303
a0001c0002t0001g0065
others(18): Show 
a0001c0001t0004g0070
a0001c0001t0018g0303
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0305
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0005t0003g0047
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0269
a0001c0005t0011g0051
a0001c0005t0021g0052
a0001c0008t0005g0046
a0006c0027t0003g0075
 21 HG00423.hp1
HG01081.hp1
HG01169.hp1
others(18): Show 
HG00423.hp1
HG01081.hp1
HG01169.hp1
HG01192.hp2
HG01517.hp2
HG02055.hp2
HG02080.hp1
HG02135.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02886.hp2
HG03098.hp1
HG03453.hp2
HG03471.hp1
HG04115.hp1
NA18522.hp1
NA18522.hp2
NA18986.hp1
NA19083.hp2
NA19240.hp2
 intron_variant MODIFIER c.-48+640_-48+645dup
others(6): Show 
c.-48+640_-48+645dupCCCCCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54457153
chr2:54457153 G
G
 GCCCCCCC
others(3): Show 
GCCCCCCCCCC
 1 a0001c0016t0005g0064
a0001c0016t0005g0064
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.-48+636_-48+645dup
others(10): Show 
c.-48+636_-48+645dupCCCCCCCCCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54457153
chr2:54457261 C
C
 T
T
 94 a0001c0001t0001g0156
a0001c0001t0002g0163
a0001c0001t0002g0167
others(91): Show 
a0001c0001t0001g0156
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0213
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0019g0183
a0001c0001t0022g0164
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0003t0003g0177
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0033g0172
a0001c0004t0002g0161
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0007g0173
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0021t0001g0197
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0007c0024t0009g0232
 94 HG00140.hp2
HG00280.hp1
HG00558.hp1
others(91): Show 
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01361.hp1
HG01496.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp2
HG02071.hp2
HG02080.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02615.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02970.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp2
HG03516.hp2
HG03540.hp2
HG03942.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp1
NA18977.hp2
NA18978.hp1
NA18982.hp1
NA18983.hp2
NA18987.hp2
NA18989.hp1
NA18993.hp1
NA18994.hp2
NA19005.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19062.hp2
NA19065.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19076.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
 intron_variant MODIFIER c.-48+743C>T
c.-48+743C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457261
chr2:54457291 C
C
 T
T
 27 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
others(24): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0048g0025
a0001c0003t0004g0024
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
a0005c0028t0001g0006
 27 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(24): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02165.hp2
HG02602.hp1
HG03654.hp2
HG04228.hp1
NA18612.hp2
NA18950.hp1
NA18959.hp1
NA18962.hp1
NA18969.hp2
NA18974.hp2
NA18977.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19074.hp2
NA19082.hp1
NA19083.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+773C>T
c.-48+773C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457291
chr2:54457370 C
C
 T
T
 7 a0001c0003t0003g0008
a0001c0004t0035g0042
a0001c0007t0013g0043
others(4): Show 
a0001c0003t0003g0008
a0001c0004t0035g0042
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0012t0016g0026
a0001c0018t0042g0027
 7 HG02145.hp2
HG02559.hp2
HG02615.hp1
others(4): Show 
HG02145.hp2
HG02559.hp2
HG02615.hp1
HG02970.hp2
HG03139.hp1
HG03225.hp1
NA20129.hp1
 intron_variant MODIFIER c.-48+852C>T
c.-48+852C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457370
chr2:54457395 A
A
 G
G
 4 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0005t0011g0038
others(1): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0005t0011g0038
a0001c0005t0043g0039
 4 HG02109.hp1
HG02559.hp1
HG02886.hp1
others(1): Show 
HG02109.hp1
HG02559.hp1
HG02886.hp1
HG03098.hp2
 intron_variant MODIFIER c.-48+877A>G
c.-48+877A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457395
chr2:54457420 A
A
 G
G
 313 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(310): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 313 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(310): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+902A>G
c.-48+902A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457420
chr2:54457428 G
G
 T
T
 38 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
others(35): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0004g0024
a0001c0004t0035g0042
a0001c0005t0011g0038
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0012t0016g0026
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0042g0027
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
a0005c0028t0001g0006
 38 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(35): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02886.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03654.hp2
HG04228.hp1
NA18612.hp2
NA18950.hp1
NA18959.hp1
NA18962.hp1
NA18969.hp2
NA18974.hp2
NA18977.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19074.hp2
NA19082.hp1
NA19083.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.-48+910G>T
c.-48+910G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457428
chr2:54457446 A
A
 G
G
 1 a0001c0005t0025g0240
a0001c0005t0025g0240
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.-48+928A>G
c.-48+928A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457446
chr2:54457529 C
C
 G
G
 313 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(310): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 313 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(310): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp2
NA18998.hp2
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+1011C>G
c.-48+1011C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457529
chr2:54457729 C
C
 G
G
 38 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
others(35): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0004g0024
a0001c0004t0035g0042
a0001c0005t0011g0038
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0012t0016g0026
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0042g0027
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
a0005c0028t0001g0006
 38 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(35): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02165.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02886.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03654.hp2
HG04228.hp1
NA18612.hp2
NA18950.hp1
NA18959.hp1
NA18962.hp1
NA18969.hp2
NA18974.hp2
NA18977.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19074.hp2
NA19082.hp1
NA19083.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.-48+1211C>G
c.-48+1211C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457729
chr2:54457758 C
C
 T
T
 75 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(72): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0013g0108
a0001c0009t0010g0088
a0001c0010t0002g0140
a0001c0011t0003g0268
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0026t0006g0102
a0002c0006t0003g0141
a0006c0027t0003g0075
a0009c0022t0051g0078
a0010c0034t0001g0002
 75 HG00323.hp1
HG00408.hp1
HG00423.hp1
others(72): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG01081.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02004.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02135.hp2
HG02165.hp1
HG02602.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG03017.hp2
HG03139.hp2
HG03490.hp1
HG03491.hp1
HG03654.hp1
HG03688.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18950.hp2
NA18952.hp1
NA18956.hp1
NA18956.hp2
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18978.hp2
NA18979.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18990.hp2
NA19001.hp2
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19062.hp1
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19091.hp1
NA20905.hp2
 intron_variant MODIFIER c.-48+1240C>T
c.-48+1240C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457758
chr2:54457784 A
A
 G
G
 1 a0001c0013t0015g0263
a0001c0013t0015g0263
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-48+1266A>G
c.-48+1266A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457784
chr2:54457938 C
C
 G
G
 4 a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0005t0008g0176
others(1): Show 
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0005t0008g0176
a0001c0008t0005g0260
 4 HG01884.hp1
HG02451.hp1
HG02965.hp1
others(1): Show 
HG01884.hp1
HG02451.hp1
HG02965.hp1
HG03453.hp1
 intron_variant MODIFIER c.-48+1420C>G
c.-48+1420C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457938
chr2:54457947 G
G
 A
A
 2 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0036
a0001c0003t0003g0037
 2 HG02109.hp1
HG03098.hp2
HG02109.hp1
HG03098.hp2
 intron_variant MODIFIER c.-48+1429G>A
c.-48+1429G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457947
chr2:54457963 C
C
 A
A
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-48+1445C>A
c.-48+1445C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457963
chr2:54457965 A
A
 G
G
 4 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0005t0011g0038
others(1): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0005t0011g0038
a0001c0005t0043g0039
 4 HG02109.hp1
HG02559.hp1
HG02886.hp1
others(1): Show 
HG02109.hp1
HG02559.hp1
HG02886.hp1
HG03098.hp2
 intron_variant MODIFIER c.-48+1447A>G
c.-48+1447A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54457965
chr2:54458089 A
A
 G
G
 1 a0001c0004t0007g0173
a0001c0004t0007g0173
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.-48+1571A>G
c.-48+1571A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458089
chr2:54458174 C
C
 T
T
 21 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
others(18): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0048g0025
a0001c0003t0004g0024
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
 21 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(18): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02165.hp2
HG02602.hp1
HG03654.hp2
HG04228.hp1
NA18950.hp1
NA18959.hp1
NA18969.hp2
NA18974.hp2
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19083.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+1656C>T
c.-48+1656C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458174
chr2:54458219 A
A
 G
G
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-48+1701A>G
c.-48+1701A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458219
chr2:54458257 T
T
 A
A
 1 a0001c0001t0005g0322
a0001c0001t0005g0322
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.-48+1739T>A
c.-48+1739T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458257
chr2:54458308 T
T
 G
G
 1 a0001c0001t0005g0322
a0001c0001t0005g0322
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.-48+1790T>G
c.-48+1790T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458308
chr2:54458459 A
A
 G
G
 21 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
others(18): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0048g0025
a0001c0003t0004g0024
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
 21 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(18): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02165.hp2
HG02602.hp1
HG03654.hp2
HG04228.hp1
NA18950.hp1
NA18959.hp1
NA18969.hp2
NA18974.hp2
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19083.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+1941A>G
c.-48+1941A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458459
chr2:54458472 G
G
 C
C
 21 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
others(18): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0048g0025
a0001c0003t0004g0024
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
 21 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(18): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02165.hp2
HG02602.hp1
HG03654.hp2
HG04228.hp1
NA18950.hp1
NA18959.hp1
NA18969.hp2
NA18974.hp2
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19083.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+1954G>C
c.-48+1954G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458472
chr2:54458492 G
G
 A
A
 21 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
others(18): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0048g0025
a0001c0003t0004g0024
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
 21 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(18): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02165.hp2
HG02602.hp1
HG03654.hp2
HG04228.hp1
NA18950.hp1
NA18959.hp1
NA18969.hp2
NA18974.hp2
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19083.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+1974G>A
c.-48+1974G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458492
chr2:54458568 G
G
 A
A
 21 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
others(18): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0002t0048g0025
a0001c0003t0004g0024
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0020t0002g0034
a0002c0006t0003g0014
a0002c0006t0003g0016
 21 HG00408.hp2
HG00423.hp2
HG02027.hp1
others(18): Show 
HG00408.hp2
HG00423.hp2
HG02027.hp1
HG02040.hp2
HG02165.hp2
HG02602.hp1
HG03654.hp2
HG04228.hp1
NA18950.hp1
NA18959.hp1
NA18969.hp2
NA18974.hp2
NA18985.hp1
NA18985.hp2
NA18998.hp2
NA19012.hp1
NA19058.hp2
NA19066.hp1
NA19083.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+2050G>A
c.-48+2050G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458568
chr2:54458683 G
G
 A
A
 1 a0001c0004t0007g0055
a0001c0004t0007g0055
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.-48+2165G>A
c.-48+2165G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54458683
chr2:54459017 C
C
 G
G
 1 a0001c0007t0013g0108
a0001c0007t0013g0108
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-48+2499C>G
c.-48+2499C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54459017
chr2:54459365 A
A
 G
G
 5 a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
others(2): Show 
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0005t0011g0051
a0001c0005t0021g0052
 5 HG02647.hp1
HG03453.hp2
HG03579.hp2
others(2): Show 
HG02647.hp1
HG03453.hp2
HG03579.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+2847A>G
c.-48+2847A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54459365
chr2:54459467 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+2949A>G
c.-48+2949A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54459467
chr2:54459603 A
A
 AT
AT
 91 a0001c0001t0002g0225
a0001c0001t0002g0367
a0001c0001t0005g0106
others(88): Show 
a0001c0001t0002g0225
a0001c0001t0002g0367
a0001c0001t0005g0106
a0001c0001t0005g0353
a0001c0001t0005g0354
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0103
a0001c0002t0001g0133
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0134
a0001c0004t0004g0358
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0043g0039
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0306
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0017t0002g0226
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 91 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(88): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-48+3093dupT
c.-48+3093dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54459603
chr2:54459630 C
C
 T
T
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.-48+3112C>T
c.-48+3112C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54459630
chr2:54459655 C
C
 G
G
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.-48+3137C>G
c.-48+3137C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54459655
chr2:54459835 A
A
 G
G
 1 a0001c0001t0002g0224
a0001c0001t0002g0224
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.-48+3317A>G
c.-48+3317A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54459835
chr2:54459899 C
C
 T
T
 1 a0001c0001t0029g0100
a0001c0001t0029g0100
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.-48+3381C>T
c.-48+3381C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54459899
chr2:54460023 T
T
 C
C
 1 a0001c0001t0002g0012
a0001c0001t0002g0012
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.-48+3505T>C
c.-48+3505T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460023
chr2:54460063 A
A
 G
G
 3 a0001c0007t0013g0137
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0007t0013g0137
a0001c0018t0007g0112
a0001c0018t0042g0027
 3 HG02559.hp2
HG02976.hp2
HG03195.hp2
HG02559.hp2
HG02976.hp2
HG03195.hp2
 intron_variant MODIFIER c.-48+3545A>G
c.-48+3545A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460063
chr2:54460088 T
T
 A
A
 1 a0001c0007t0013g0108
a0001c0007t0013g0108
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-48+3570T>A
c.-48+3570T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460088
chr2:54460117 C
C
 T
T
 52 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(49): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0007c0024t0009g0232
a0008c0030t0030g0174
 52 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(49): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA18990.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+3599C>T
c.-48+3599C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460117
chr2:54460128 G
G
 A
A
 145 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
others(142): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0009c0022t0051g0078
a0010c0034t0001g0002
 145 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(142): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02615.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+3610G>A
c.-48+3610G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460128
chr2:54460270 T
T
 A
A
 2 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0004
a0001c0005t0003g0005
 2 HG03516.hp1
NA21309.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+3752T>A
c.-48+3752T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460270
chr2:54460338 A
A
 G
G
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.-48+3820A>G
c.-48+3820A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460338
chr2:54460386 C
C
 G
G
 121 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(118): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 121 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(118): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+3868C>G
c.-48+3868C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460386
chr2:54460393 G
G
 A
A
 1 a0001c0001t0002g0338
a0001c0001t0002g0338
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.-48+3875G>A
c.-48+3875G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460393
chr2:54460438 A
A
 T
T
 2 a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0066
a0001c0002t0001g0067
 2 HG01081.hp1
HG01192.hp2
HG01081.hp1
HG01192.hp2
 intron_variant MODIFIER c.-48+3920A>T
c.-48+3920A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460438
chr2:54460534 G
G
 A
A
 25 a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0019g0031
others(22): Show 
a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0019g0031
a0001c0002t0001g0147
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0004t0002g0161
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
 25 HG00738.hp2
HG01123.hp1
HG01175.hp1
others(22): Show 
HG00738.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02109.hp2
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp2
HG03669.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+4016G>A
c.-48+4016G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460534
chr2:54460614 G
G
 A
A
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.-48+4096G>A
c.-48+4096G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460614
chr2:54460816 C
C
 T
T
 3 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0012t0016g0135
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0012t0016g0135
 3 HG02280.hp2
NA19030.hp1
NA21309.hp1
HG02280.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-48+4298C>T
c.-48+4298C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460816
chr2:54460951 G
G
 A
A
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+4433G>A
c.-48+4433G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460951
chr2:54460963 C
C
 G
G
 192 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(189): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0004t0002g0161
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0009c0022t0051g0078
a0010c0034t0001g0002
 192 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(189): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+4445C>G
c.-48+4445C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460963
chr2:54460971 C
C
 T
T
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.-48+4453C>T
c.-48+4453C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54460971
chr2:54461046 C
C
 T
T
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+4528C>T
c.-48+4528C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461046
chr2:54461097 A
A
 G
G
 50 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(47): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0007c0024t0009g0232
 50 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(47): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA18990.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+4579A>G
c.-48+4579A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461097
chr2:54461099 C
C
 A
A
 53 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(50): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0007c0024t0009g0232
a0008c0030t0030g0174
 53 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA18990.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+4581C>A
c.-48+4581C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461099
chr2:54461321 G
G
 A
A
 14 a0001c0001t0001g0156
a0001c0002t0001g0147
a0001c0002t0006g0148
others(11): Show 
a0001c0001t0001g0156
a0001c0002t0001g0147
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
 14 HG00738.hp2
HG01123.hp1
HG01175.hp1
others(11): Show 
HG00738.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG03669.hp1
 intron_variant MODIFIER c.-48+4803G>A
c.-48+4803G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461321
chr2:54461371 G
G
 T
T
 142 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
others(139): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 142 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(139): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02602.hp1
HG02615.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+4853G>T
c.-48+4853G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461371
chr2:54461517 A
A
 G
G
 5 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(2): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
 5 HG02886.hp2
HG03471.hp1
HG03579.hp1
others(2): Show 
HG02886.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+4999A>G
c.-48+4999A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461517
chr2:54461543 C
C
 T
T
 51 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(48): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0018t0007g0112
a0001c0018t0042g0027
a0007c0024t0009g0232
a0008c0030t0030g0174
 51 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(48): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA18990.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+5025C>T
c.-48+5025C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461543
chr2:54461585 T
T
 A
A
 2 a0001c0001t0002g0301
a0001c0001t0004g0001
a0001c0001t0002g0301
a0001c0001t0004g0001
 2 NA19065.hp2
NA19079.hp2
NA19065.hp2
NA19079.hp2
 intron_variant MODIFIER c.-48+5067T>A
c.-48+5067T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461585
chr2:54461599 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+5081C>T
c.-48+5081C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461599
chr2:54461630 G
G
 T
T
 68 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(65): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 68 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(65): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+5112G>T
c.-48+5112G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461630
chr2:54461727 G
G
 C
C
 52 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(49): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0007c0024t0009g0232
a0008c0030t0030g0174
 52 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(49): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA18990.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+5209G>C
c.-48+5209G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461727
chr2:54461826 C
C
 T
T
 49 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(46): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
 49 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(46): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+5308C>T
c.-48+5308C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461826
chr2:54461890 G
G
 A
A
 241 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(238): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 241 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(238): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+5372G>A
c.-48+5372G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461890
chr2:54461966 A
A
 G
G
 2 a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0005t0025g0250
a0001c0005t0043g0039
 2 HG02630.hp1
HG02886.hp1
HG02630.hp1
HG02886.hp1
 intron_variant MODIFIER c.-48+5448A>G
c.-48+5448A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461966
chr2:54461997 G
G
 A
A
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.-48+5479G>A
c.-48+5479G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54461997
chr2:54462089 G
G
 C
C
 1 a0001c0011t0003g0268
a0001c0011t0003g0268
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-48+5571G>C
c.-48+5571G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462089
chr2:54462091 T
T
 C
C
 1 a0001c0011t0003g0268
a0001c0011t0003g0268
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-48+5573T>C
c.-48+5573T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462091
chr2:54462251 C
C
 T
T
 1 a0001c0005t0003g0191
a0001c0005t0003g0191
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.-48+5733C>T
c.-48+5733C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462251
chr2:54462296 G
G
 A
A
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-48+5778G>A
c.-48+5778G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462296
chr2:54462405 C
C
 G
G
 4 a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
others(1): Show 
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0009t0045g0298
 4 HG01978.hp2
HG03490.hp2
HG03492.hp1
others(1): Show 
HG01978.hp2
HG03490.hp2
HG03492.hp1
HG03831.hp1
 intron_variant MODIFIER c.-48+5887C>G
c.-48+5887C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462405
chr2:54462473 C
C
 G
G
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-48+5955C>G
c.-48+5955C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462473
chr2:54462596 T
T
 C
C
 2 a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0264
a0001c0004t0004g0265
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.-48+6078T>C
c.-48+6078T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462596
chr2:54462692 C
C
 G
G
 117 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
others(114): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 117 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(114): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+6174C>G
c.-48+6174C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462692
chr2:54462716 G
G
 T
T
 1 a0001c0005t0003g0190
a0001c0005t0003g0190
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-48+6198G>T
c.-48+6198G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462716
chr2:54462886 G
G
 C
C
 1 a0001c0003t0009g0227
a0001c0003t0009g0227
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.-48+6368G>C
c.-48+6368G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462886
chr2:54462905 T
T
 C
C
 1 a0001c0004t0004g0068
a0001c0004t0004g0068
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.-48+6387T>C
c.-48+6387T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462905
chr2:54462970 C
C
 T
T
 1 a0001c0001t0005g0221
a0001c0001t0005g0221
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.-48+6452C>T
c.-48+6452C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54462970
chr2:54463090 TG
TG
 T
T
 61 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(58): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 61 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(58): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19076.hp2
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+6577delG
c.-48+6577delG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54463090
chr2:54463176 AATCCTAT
others(3): Show 
AATCCTATGCG
 A
A
 49 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(46): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
 49 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(46): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+6660_-48+6669d
others(12): Show 
c.-48+6660_-48+6669delTCCTATGCGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54463176
chr2:54463200 G
G
 T
T
 2 a0001c0007t0013g0108
a0001c0008t0005g0245
a0001c0007t0013g0108
a0001c0008t0005g0245
 2 HG02965.hp2
HG03139.hp2
HG02965.hp2
HG03139.hp2
 intron_variant MODIFIER c.-48+6682G>T
c.-48+6682G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463200
chr2:54463245 C
C
 T
T
 1 a0001c0001t0002g0249
a0001c0001t0002g0249
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-48+6727C>T
c.-48+6727C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463245
chr2:54463343 A
A
 G
G
 1 a0001c0003t0004g0024
a0001c0003t0004g0024
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.-48+6825A>G
c.-48+6825A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463343
chr2:54463383 T
T
 C
C
 2 a0001c0003t0003g0304
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0135
 2 HG01884.hp2
NA19030.hp1
HG01884.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+6865T>C
c.-48+6865T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463383
chr2:54463405 T
T
 A
A
 1 a0001c0002t0001g0334
a0001c0002t0001g0334
 1 NA19076.hp2
NA19076.hp2
 intron_variant MODIFIER c.-48+6887T>A
c.-48+6887T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463405
chr2:54463405 T
T
 C
C
 201 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
others(198): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0137
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 201 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(198): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+6887T>C
c.-48+6887T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463405
chr2:54463455 T
T
 C
C
 3 a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0179
 3 NA18957.hp2
NA18989.hp1
NA18994.hp2
NA18957.hp2
NA18989.hp1
NA18994.hp2
 intron_variant MODIFIER c.-48+6937T>C
c.-48+6937T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463455
chr2:54463513 C
C
 T
T
 2 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0004
a0001c0005t0003g0005
 2 HG03516.hp1
NA21309.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+6995C>T
c.-48+6995C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463513
chr2:54463521 C
C
 T
T
 60 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(57): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+7003C>T
c.-48+7003C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463521
chr2:54463539 A
A
 C
C
 59 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(56): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 59 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(56): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+7021A>C
c.-48+7021A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463539
chr2:54463541 A
A
 C
C
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+7023A>C
c.-48+7023A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463541
chr2:54463542 C
C
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+7024C>A
c.-48+7024C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463542
chr2:54463544 G
G
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+7026G>T
c.-48+7026G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463544
chr2:54463545 C
C
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+7027C>A
c.-48+7027C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463545
chr2:54463546 C
C
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+7028C>A
c.-48+7028C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463546
chr2:54463550 A
A
 AGAAAAGG
others(202): Show 
AGAAAAGGGGAAATGTTTTTTAATGGAACATAATCAAATAAATTATGGCG
CAACTGTAGGGTGGAATTCAATGTAGTGCTTAAAATAATGGTTTGGAAGA
ATATTACTGAGATGGGAAGATGCCGGTAATACAGGGGTTAGTGGAAATAT
CTGGATGCAAAATTGTATAGTGTACTATAATCCTGGTTTTACTGTATTAA
GTTGAGGGAC
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+7032_-48+7033i
others(211): Show 
c.-48+7032_-48+7033insGAAAAGGGGAAATGTTTTTTAATGGAAC
ATAATCAAATAAATTATGGCGCAACTGTAGGGTGGAATTCAATGTAGTGC
TTAAAATAATGGTTTGGAAGAATATTACTGAGATGGGAAGATGCCGGTAA
TACAGGGGTTAGTGGAAATATCTGGATGCAAAATTGTATAGTGTACTATA
ATCCTGGTTTTACTGTATTAAGTTGAGGGAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463550
chr2:54463611 A
A
 G
G
 40 a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0019g0031
others(37): Show 
a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0147
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
 40 HG00738.hp2
HG01123.hp1
HG01175.hp1
others(37): Show 
HG00738.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp1
NA18522.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+7093A>G
c.-48+7093A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463611
chr2:54463615 G
G
 A
A
 1 a0001c0007t0013g0137
a0001c0007t0013g0137
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-48+7097G>A
c.-48+7097G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463615
chr2:54463644 C
C
 T
T
 1 a0001c0001t0020g0023
a0001c0001t0020g0023
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.-48+7126C>T
c.-48+7126C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463644
chr2:54463682 A
A
 C
C
 1 a0001c0015t0002g0220
a0001c0015t0002g0220
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.-48+7164A>C
c.-48+7164A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463682
chr2:54463686 T
T
 C
C
 1 a0001c0002t0004g0101
a0001c0002t0004g0101
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.-48+7168T>C
c.-48+7168T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463686
chr2:54463802 G
G
 A
A
 60 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(57): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+7284G>A
c.-48+7284G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463802
chr2:54463811 C
C
 A
A
 60 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(57): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+7293C>A
c.-48+7293C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463811
chr2:54463827 T
T
 A
A
 60 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(57): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+7309T>A
c.-48+7309T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54463827
chr2:54464178 C
C
 G
G
 2 a0001c0001t0002g0219
a0001c0001t0002g0350
a0001c0001t0002g0219
a0001c0001t0002g0350
 2 NA18952.hp2
NA19090.hp1
NA18952.hp2
NA19090.hp1
 intron_variant MODIFIER c.-48+7660C>G
c.-48+7660C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464178
chr2:54464235 C
C
 G
G
 1 a0001c0001t0044g0297
a0001c0001t0044g0297
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.-48+7717C>G
c.-48+7717C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464235
chr2:54464284 A
A
 G
G
 15 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(12): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
 15 HG01109.hp2
HG01167.hp2
HG01255.hp2
others(12): Show 
HG01109.hp2
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02258.hp1
HG02451.hp2
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03669.hp2
HG06807.hp1
NA20905.hp2
 intron_variant MODIFIER c.-48+7766A>G
c.-48+7766A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464284
chr2:54464385 C
C
 T
T
 1 a0001c0004t0007g0173
a0001c0004t0007g0173
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.-48+7867C>T
c.-48+7867C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464385
chr2:54464408 A
A
 G
G
 15 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(12): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
 15 HG01109.hp2
HG01167.hp2
HG01255.hp2
others(12): Show 
HG01109.hp2
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02258.hp1
HG02451.hp2
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03669.hp2
HG06807.hp1
NA20905.hp2
 intron_variant MODIFIER c.-48+7890A>G
c.-48+7890A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464408
chr2:54464832 T
T
 A
A
 2 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0036
a0001c0003t0003g0037
 2 HG02109.hp1
HG03098.hp2
HG02109.hp1
HG03098.hp2
 intron_variant MODIFIER c.-48+8314T>A
c.-48+8314T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464832
chr2:54464838 C
C
 A
A
 2 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0036
a0001c0003t0003g0037
 2 HG02109.hp1
HG03098.hp2
HG02109.hp1
HG03098.hp2
 intron_variant MODIFIER c.-48+8320C>A
c.-48+8320C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464838
chr2:54464906 G
G
 T
T
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.-48+8388G>T
c.-48+8388G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464906
chr2:54464929 T
T
 G
G
 1 a0001c0002t0029g0339
a0001c0002t0029g0339
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.-48+8411T>G
c.-48+8411T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54464929
chr2:54465044 A
A
 G
G
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.-48+8526A>G
c.-48+8526A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465044
chr2:54465139 T
T
 C
C
 2 a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0027g0053
a0001c0003t0027g0054
 2 NA18906.hp2
NA19240.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.-48+8621T>C
c.-48+8621T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465139
chr2:54465232 C
C
 T
T
 49 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(46): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
 49 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(46): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+8714C>T
c.-48+8714C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465232
chr2:54465234 C
C
 G
G
 1 a0001c0016t0005g0099
a0001c0016t0005g0099
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.-48+8716C>G
c.-48+8716C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465234
chr2:54465346 C
C
 T
T
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.-48+8828C>T
c.-48+8828C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465346
chr2:54465357 A
A
 G
G
 5 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
others(2): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0008t0005g0306
 5 HG02055.hp1
HG02970.hp2
HG02976.hp1
others(2): Show 
HG02055.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
 intron_variant MODIFIER c.-48+8839A>G
c.-48+8839A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465357
chr2:54465460 A
A
 G
G
 3 a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
 3 HG02559.hp1
HG02572.hp1
HG03209.hp2
HG02559.hp1
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.-48+8942A>G
c.-48+8942A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465460
chr2:54465463 A
A
 G
G
 1 a0001c0009t0007g0280
a0001c0009t0007g0280
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.-48+8945A>G
c.-48+8945A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465463
chr2:54465588 G
G
 A
A
 1 a0001c0012t0016g0026
a0001c0012t0016g0026
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.-48+9070G>A
c.-48+9070G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465588
chr2:54465637 C
C
 CAT
CAT
 5 a0001c0001t0005g0291
a0001c0002t0047g0279
a0001c0003t0003g0292
others(2): Show 
a0001c0001t0005g0291
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0029t0007g0290
 5 HG01106.hp1
HG01433.hp1
HG01884.hp2
others(2): Show 
HG01106.hp1
HG01433.hp1
HG01884.hp2
HG06807.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(4): Show 
c.-48+9119_-48+9120insAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 C
C
 CATATAT
CATATAT
 6 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0003t0003g0366
others(3): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0003t0003g0366
a0001c0005t0025g0240
a0001c0012t0016g0189
a0002c0006t0003g0014
 6 HG02895.hp2
HG02976.hp1
HG03516.hp2
others(3): Show 
HG02895.hp2
HG02976.hp1
HG03516.hp2
HG04228.hp1
NA19012.hp1
NA19083.hp1
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(8): Show 
c.-48+9119_-48+9120insATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 C
C
 CATATATA
others(1): Show 
CATATATAT
 12 a0001c0001t0002g0090
a0001c0001t0018g0303
a0001c0002t0001g0337
others(9): Show 
a0001c0001t0002g0090
a0001c0001t0018g0303
a0001c0002t0001g0337
a0001c0002t0006g0278
a0001c0003t0003g0305
a0001c0005t0031g0187
a0001c0008t0005g0306
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0012t0016g0153
a0002c0006t0003g0188
 12 HG01167.hp1
HG01169.hp2
HG01257.hp1
others(9): Show 
HG01167.hp1
HG01169.hp2
HG01257.hp1
HG01975.hp1
HG02055.hp1
HG02055.hp2
HG02135.hp1
HG02809.hp2
HG03098.hp1
HG03540.hp2
NA19005.hp1
NA19055.hp2
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(10): Show 
c.-48+9119_-48+9120insATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 C
C
 CATATATA
others(3): Show 
CATATATATAT
 24 a0001c0001t0001g0087
a0001c0001t0002g0123
a0001c0001t0005g0309
others(21): Show 
a0001c0001t0001g0087
a0001c0001t0002g0123
a0001c0001t0005g0309
a0001c0001t0014g0282
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0287
a0001c0002t0001g0335
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0005t0003g0005
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0010g0088
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
 24 HG01071.hp1
HG01081.hp1
HG01106.hp2
others(21): Show 
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01192.hp2
HG01256.hp2
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03669.hp2
HG04115.hp1
NA18941.hp1
NA18946.hp2
NA18964.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp1
NA18987.hp1
NA18989.hp2
NA19000.hp1
NA19054.hp2
NA19056.hp1
NA19065.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(12): Show 
c.-48+9119_-48+9120insATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 52 a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
others(49): Show 
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0019g0183
a0001c0001t0022g0118
a0001c0001t0044g0297
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0117
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0006g0116
a0001c0002t0006g0276
a0001c0002t0006g0323
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0004
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0045g0298
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0184
a0002c0006t0003g0185
a0010c0034t0001g0002
 52 HG00140.hp1
HG00408.hp1
HG00639.hp1
others(49): Show 
HG00140.hp1
HG00408.hp1
HG00639.hp1
HG00735.hp1
HG01109.hp2
HG01943.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02615.hp2
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03516.hp1
HG03704.hp1
NA18612.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18968.hp1
NA18971.hp1
NA18974.hp1
NA18978.hp2
NA18985.hp2
NA18986.hp2
NA18993.hp1
NA18994.hp2
NA19000.hp2
NA19002.hp2
NA19043.hp1
NA19058.hp2
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA19090.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(14): Show 
c.-48+9119_-48+9120insATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 C
C
 CATATATA
others(7): Show 
CATATATATATATAT
 4 a0001c0001t0018g0180
a0001c0001t0029g0100
a0001c0002t0006g0284
others(1): Show 
a0001c0001t0018g0180
a0001c0001t0029g0100
a0001c0002t0006g0284
a0002c0006t0003g0179
 4 HG00558.hp2
HG02155.hp1
HG02818.hp1
others(1): Show 
HG00558.hp2
HG02155.hp1
HG02818.hp1
NA18989.hp1
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(16): Show 
c.-48+9119_-48+9120insATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 C
C
 CATATATA
others(9): Show 
CATATATATATATATAT
 2 a0001c0002t0001g0115
a0001c0023t0005g0283
a0001c0002t0001g0115
a0001c0023t0005g0283
 2 HG01517.hp1
NA18964.hp2
HG01517.hp1
NA18964.hp2
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(18): Show 
c.-48+9119_-48+9120insATATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 C
C
 CATATATA
others(13): Show 
CATATATATATATATATATAT
 2 a0001c0002t0001g0009
a0009c0022t0051g0078
a0001c0002t0001g0009
a0009c0022t0051g0078
 2 HG03688.hp1
NA19074.hp2
HG03688.hp1
NA19074.hp2
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(22): Show 
c.-48+9119_-48+9120insATATATATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 C
C
 CATATATA
others(15): Show 
CATATATATATATATATATATAT
 1 a0002c0006t0003g0178
a0002c0006t0003g0178
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.-48+9119_-48+9120i
others(24): Show 
c.-48+9119_-48+9120insATATATATATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465637 CTCATATA
others(1): Show 
CTCATATAT
 C
C
 3 a0001c0002t0001g0312
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0001g0312
a0001c0002t0028g0294
a0001c0002t0028g0295
 3 HG00280.hp2
HG00323.hp2
HG02486.hp1
HG00280.hp2
HG00323.hp2
HG02486.hp1
 intron_variant MODIFIER c.-48+9120_-48+9127d
others(10): Show 
c.-48+9120_-48+9127delTCATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465637
chr2:54465638 T
T
 A
A
 130 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
others(127): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 130 HG00140.hp1
HG00408.hp1
HG00558.hp2
others(127): Show 
HG00140.hp1
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+9120T>A
c.-48+9120T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465638
chr2:54465639 C
C
 CAT
CAT
 11 a0001c0001t0002g0017
a0001c0001t0002g0350
a0001c0001t0005g0221
others(8): Show 
a0001c0001t0002g0017
a0001c0001t0002g0350
a0001c0001t0005g0221
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
 11 HG02145.hp2
HG02647.hp1
HG02886.hp2
others(8): Show 
HG02145.hp2
HG02647.hp1
HG02886.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp1
HG04204.hp2
NA18522.hp1
NA18985.hp1
NA19090.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+9150_-48+9151d
others(4): Show 
c.-48+9150_-48+9151dupAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATAT
CATAT
 3 a0001c0005t0011g0254
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0005t0011g0254
a0001c0014t0037g0011
a0001c0019t0012g0246
 3 HG02572.hp1
HG02622.hp2
NA18977.hp1
HG02572.hp1
HG02622.hp2
NA18977.hp1
 intron_variant MODIFIER c.-48+9148_-48+9151d
others(6): Show 
c.-48+9148_-48+9151dupATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATATAT
CATATAT
 4 a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0008t0005g0244
others(1): Show 
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0008t0005g0244
a0001c0019t0012g0252
 4 HG03209.hp2
HG03453.hp2
HG03540.hp1
others(1): Show 
HG03209.hp2
HG03453.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.-48+9146_-48+9151d
others(8): Show 
c.-48+9146_-48+9151dupATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATATATA
others(1): Show 
CATATATAT
 8 a0001c0001t0050g0242
a0001c0002t0006g0149
a0001c0005t0008g0176
others(5): Show 
a0001c0001t0050g0242
a0001c0002t0006g0149
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0260
 8 HG02109.hp2
HG02257.hp1
HG02451.hp1
others(5): Show 
HG02109.hp2
HG02257.hp1
HG02451.hp1
HG02809.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+9144_-48+9151d
others(10): Show 
c.-48+9144_-48+9151dupATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATATATA
others(3): Show 
CATATATATAT
 4 a0001c0001t0019g0241
a0001c0008t0005g0245
a0001c0010t0002g0199
others(1): Show 
a0001c0001t0019g0241
a0001c0008t0005g0245
a0001c0010t0002g0199
a0001c0010t0017g0150
 4 HG02280.hp2
HG02293.hp1
HG02965.hp2
others(1): Show 
HG02280.hp2
HG02293.hp1
HG02965.hp2
NA18970.hp1
 intron_variant MODIFIER c.-48+9142_-48+9151d
others(12): Show 
c.-48+9142_-48+9151dupATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 13 a0001c0001t0001g0156
a0001c0002t0006g0148
a0001c0002t0006g0154
others(10): Show 
a0001c0001t0001g0156
a0001c0002t0006g0148
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0314
a0001c0004t0004g0170
a0001c0010t0017g0162
a0001c0010t0017g0198
 13 HG00735.hp2
HG00738.hp2
HG00741.hp2
others(10): Show 
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02273.hp2
 intron_variant MODIFIER c.-48+9140_-48+9151d
others(14): Show 
c.-48+9140_-48+9151dupATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATATATA
others(7): Show 
CATATATATATATAT
 4 a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0002t0001g0147
others(1): Show 
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0002t0001g0147
a0001c0002t0006g0271
 4 HG02293.hp2
NA18951.hp1
NA18992.hp1
others(1): Show 
HG02293.hp2
NA18951.hp1
NA18992.hp1
NA19012.hp2
 intron_variant MODIFIER c.-48+9138_-48+9151d
others(16): Show 
c.-48+9138_-48+9151dupATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATATATA
others(9): Show 
CATATATATATATATAT
 1 a0001c0002t0006g0313
a0001c0002t0006g0313
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-48+9136_-48+9151d
others(18): Show 
c.-48+9136_-48+9151dupATATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATATATA
others(15): Show 
CATATATATATATATATATATAT
 1 a0001c0002t0006g0299
a0001c0002t0006g0299
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.-48+9130_-48+9151d
others(24): Show 
c.-48+9130_-48+9151dupATATATATATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 CATATATA
others(21): Show 
CATATATATATATATATATATATATATAT
 1 a0001c0001t0002g0367
a0001c0001t0002g0367
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-48+9124_-48+9151d
others(30): Show 
c.-48+9124_-48+9151dupATATATATATATATATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 C
C
 T
T
 131 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
others(128): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 131 HG00140.hp1
HG00408.hp1
HG00558.hp2
others(128): Show 
HG00140.hp1
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+9121C>T
c.-48+9121C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465639
chr2:54465639 CAT
CAT
 C
C
 97 a0001c0001t0002g0007
a0001c0001t0002g0018
a0001c0001t0002g0020
others(94): Show 
a0001c0001t0002g0007
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0249
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0003g0059
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0322
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0354
a0001c0001t0007g0019
a0001c0001t0007g0347
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0164
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0002t0001g0133
a0001c0002t0001g0204
a0001c0002t0029g0339
a0001c0003t0003g0261
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0047
a0001c0005t0008g0056
a0001c0009t0007g0272
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0020t0002g0034
a0001c0033t0007g0248
a0003c0031t0004g0063
 97 HG00099.hp2
HG00323.hp1
HG00423.hp2
others(94): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp2
HG00609.hp1
HG00639.hp2
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp1
HG03490.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
NA18522.hp2
NA18612.hp2
NA18946.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18969.hp2
NA18974.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18990.hp1
NA18994.hp1
NA18998.hp2
NA19001.hp2
NA19010.hp1
NA19054.hp1
NA19058.hp1
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.-48+9150_-48+9151d
others(4): Show 
c.-48+9150_-48+9151delAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 CATAT
CATAT
 C
C
 10 a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
others(7): Show 
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0224
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0002t0001g0111
a0001c0004t0004g0218
a0001c0005t0011g0038
 10 HG00558.hp1
HG01255.hp2
HG02451.hp2
others(7): Show 
HG00558.hp1
HG01255.hp2
HG02451.hp2
HG02559.hp1
HG06807.hp1
NA18971.hp2
NA18978.hp1
NA19055.hp1
NA19076.hp1
NA20752.hp2
 intron_variant MODIFIER c.-48+9148_-48+9151d
others(6): Show 
c.-48+9148_-48+9151delATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 CATATATA
others(5): Show 
CATATATATATAT
 C
C
 2 a0001c0001t0002g0225
a0001c0013t0015g0255
a0001c0001t0002g0225
a0001c0013t0015g0255
 2 HG02155.hp2
HG03209.hp1
HG02155.hp2
HG03209.hp1
 intron_variant MODIFIER c.-48+9140_-48+9151d
others(14): Show 
c.-48+9140_-48+9151delATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465639 CATATATA
others(7): Show 
CATATATATATATAT
 C
C
 60 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(57): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+9138_-48+9151d
others(16): Show 
c.-48+9138_-48+9151delATATATATATATAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465639
chr2:54465640 A
A
 T
T
 1 a0001c0009t0045g0298
a0001c0009t0045g0298
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.-48+9122A>T
c.-48+9122A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465640
chr2:54465666 A
A
 ATATATAT
others(11): Show 
ATATATATATATATATATC
 1 a0001c0002t0001g0307
a0001c0002t0001g0307
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.-48+9151_-48+9152i
others(20): Show 
c.-48+9151_-48+9152insATATATATATATATCTAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465666
chr2:54465666 A
A
 ATATATAT
others(7): Show 
ATATATATATATATC
 6 a0001c0002t0001g0308
a0001c0002t0001g0324
a0001c0002t0001g0325
others(3): Show 
a0001c0002t0001g0308
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0006g0114
a0005c0028t0001g0006
 6 HG02165.hp1
NA18959.hp2
NA18962.hp1
others(3): Show 
HG02165.hp1
NA18959.hp2
NA18962.hp1
NA18969.hp1
NA18998.hp1
NA19001.hp1
 intron_variant MODIFIER c.-48+9151_-48+9152i
others(16): Show 
c.-48+9151_-48+9152insATATATATATCTAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465666
chr2:54465666 A
A
 ATATATAT
others(5): Show 
ATATATATATATC
 8 a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0186
others(5): Show 
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0186
a0001c0002t0001g0310
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0334
a0004c0032t0004g0329
 8 HG02080.hp2
NA18963.hp1
NA18983.hp1
others(5): Show 
HG02080.hp2
NA18963.hp1
NA18983.hp1
NA18992.hp2
NA18993.hp2
NA19005.hp2
NA19076.hp2
NA19082.hp1
 intron_variant MODIFIER c.-48+9151_-48+9152i
others(14): Show 
c.-48+9151_-48+9152insATATATATCTAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465666
chr2:54465666 A
A
 ATATATAT
others(3): Show 
ATATATATATC
 2 a0001c0002t0001g0333
a0001c0002t0046g0332
a0001c0002t0001g0333
a0001c0002t0046g0332
 2 NA19002.hp1
NA19064.hp1
NA19002.hp1
NA19064.hp1
 intron_variant MODIFIER c.-48+9151_-48+9152i
others(12): Show 
c.-48+9151_-48+9152insATATATCTAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54465666
chr2:54465678 T
T
 C
C
 245 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(242): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 245 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(242): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+9160T>C
c.-48+9160T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465678
chr2:54465680 G
G
 A
A
 1 a0001c0007t0013g0137
a0001c0007t0013g0137
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-48+9162G>A
c.-48+9162G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465680
chr2:54465979 G
G
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
 3 HG03654.hp1
HG04204.hp1
HG04204.hp2
HG03654.hp1
HG04204.hp1
HG04204.hp2
 intron_variant MODIFIER c.-48+9461G>C
c.-48+9461G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465979
chr2:54465991 A
A
 G
G
 9 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(6): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0124
a0001c0002t0006g0089
a0001c0010t0002g0140
 9 NA18941.hp1
NA18944.hp1
NA18950.hp2
others(6): Show 
NA18941.hp1
NA18944.hp1
NA18950.hp2
NA18963.hp2
NA18964.hp1
NA18970.hp2
NA18978.hp2
NA18986.hp2
NA18987.hp1
 intron_variant MODIFIER c.-48+9473A>G
c.-48+9473A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54465991
chr2:54466067 G
G
 T
T
 211 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(208): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0021g0040
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 211 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(208): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+9549G>T
c.-48+9549G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54466067
chr2:54466135 C
C
 T
T
 2 a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0098
a0001c0004t0004g0132
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.-48+9617C>T
c.-48+9617C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54466135
chr2:54466341 TAAGTATG
others(257): Show 
TAAGTATGTTTATTCTTCGAGACCATCCTGGCTAACACGGTGAAACCCCG
TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGT
AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA
GGCGAAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGC
GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAA
 T
T
 245 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(242): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 245 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(242): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+9840_-48+10103
others(3): Show 
c.-48+9840_-48+10103del
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466341
chr2:54466493 C
C
 T
T
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.-48+9975C>T
c.-48+9975C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54466493
chr2:54466561 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 1 a0001c0004t0010g0175
a0001c0004t0010g0175
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.-48+10078_-48+1008
others(16): Show 
c.-48+10078_-48+10089dupAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 1 a0001c0004t0010g0315
a0001c0004t0010g0315
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.-48+10076_-48+1008
others(18): Show 
c.-48+10076_-48+10089dupAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 1 a0001c0004t0007g0110
a0001c0004t0007g0110
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.-48+10075_-48+1008
others(19): Show 
c.-48+10075_-48+10089dupAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 C
C
 CAAAAAAA
others(10): Show 
CAAAAAAAAAAAAAAAAA
 1 a0001c0004t0010g0109
a0001c0004t0010g0109
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.-48+10073_-48+1008
others(21): Show 
c.-48+10073_-48+10089dupAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0005g0203
a0001c0001t0005g0203
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.-48+10072_-48+1008
others(22): Show 
c.-48+10072_-48+10089dupAAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 C
C
 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.-48+10071_-48+1008
others(23): Show 
c.-48+10071_-48+10089dupAAAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CA
CA
 C
C
 10 a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0004g0092
others(7): Show 
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0143
a0001c0001t0005g0342
a0001c0005t0008g0056
a0002c0006t0003g0141
 10 HG00609.hp1
HG02572.hp2
HG03831.hp2
others(7): Show 
HG00609.hp1
HG02572.hp2
HG03831.hp2
NA18945.hp1
NA18979.hp1
NA18982.hp2
NA19054.hp1
NA19062.hp1
NA19066.hp2
NA19067.hp2
 intron_variant MODIFIER c.-48+10089delA
c.-48+10089delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAA
CAA
 C
C
 12 a0001c0001t0002g0017
a0001c0001t0002g0214
a0001c0001t0004g0070
others(9): Show 
a0001c0001t0002g0017
a0001c0001t0002g0214
a0001c0001t0004g0070
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0343
a0001c0002t0001g0133
a0001c0004t0004g0068
a0001c0004t0004g0205
a0001c0004t0004g0317
a0001c0004t0007g0057
a0001c0017t0002g0165
 12 HG01192.hp1
HG02071.hp2
HG02080.hp1
others(9): Show 
HG01192.hp1
HG02071.hp2
HG02080.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG03942.hp1
HG04184.hp1
NA18952.hp1
NA18985.hp1
NA18990.hp1
NA19088.hp1
 intron_variant MODIFIER c.-48+10088_-48+1008
others(6): Show 
c.-48+10088_-48+10089delAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAA
CAAA
 C
C
 14 a0001c0001t0005g0206
a0001c0001t0005g0344
a0001c0001t0005g0354
others(11): Show 
a0001c0001t0005g0206
a0001c0001t0005g0344
a0001c0001t0005g0354
a0001c0001t0014g0097
a0001c0003t0003g0261
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0131
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0007g0055
a0001c0004t0035g0042
a0001c0019t0012g0252
 14 HG00323.hp1
HG01123.hp2
HG01168.hp1
others(11): Show 
HG00323.hp1
HG01123.hp2
HG01168.hp1
HG01169.hp1
HG01496.hp2
HG01515.hp1
HG02683.hp2
HG02922.hp2
HG02965.hp1
HG03490.hp1
HG03540.hp1
NA19074.hp1
NA19083.hp2
NA20129.hp1
 intron_variant MODIFIER c.-48+10087_-48+1008
others(7): Show 
c.-48+10087_-48+10089delAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAA
CAAAA
 C
C
 17 a0001c0001t0002g0012
a0001c0001t0002g0020
a0001c0001t0002g0021
others(14): Show 
a0001c0001t0002g0012
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0033
a0001c0001t0002g0167
a0001c0001t0002g0239
a0001c0001t0002g0338
a0001c0001t0005g0106
a0001c0001t0005g0341
a0001c0001t0007g0019
a0001c0001t0020g0032
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0004t0004g0201
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0019t0012g0246
 17 HG00408.hp2
HG00423.hp2
HG00735.hp2
others(14): Show 
HG00408.hp2
HG00423.hp2
HG00735.hp2
HG01346.hp1
HG01361.hp2
HG01978.hp1
HG02083.hp2
HG02165.hp2
HG02300.hp2
HG02622.hp1
HG02622.hp2
HG03927.hp2
NA18940.hp2
NA18959.hp1
NA18969.hp2
NA19081.hp2
NA19091.hp2
 intron_variant MODIFIER c.-48+10086_-48+1008
others(8): Show 
c.-48+10086_-48+10089delAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAA
CAAAAA
 C
C
 17 a0001c0001t0002g0035
a0001c0001t0002g0168
a0001c0001t0002g0207
others(14): Show 
a0001c0001t0002g0035
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0225
a0001c0001t0005g0136
a0001c0001t0005g0345
a0001c0001t0020g0022
a0001c0002t0001g0111
a0001c0002t0029g0339
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0020t0002g0034
a0003c0031t0004g0063
 17 HG00099.hp2
HG00639.hp2
HG01496.hp1
others(14): Show 
HG00099.hp2
HG00639.hp2
HG01496.hp1
HG01993.hp2
HG02040.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp1
NA18955.hp1
NA18962.hp2
NA18970.hp1
NA18974.hp2
NA18987.hp2
NA18998.hp2
NA19082.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.-48+10085_-48+1008
others(9): Show 
c.-48+10085_-48+10089delAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0004t0004g0318
a0001c0004t0004g0318
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.-48+10080_-48+1008
others(14): Show 
c.-48+10080_-48+10089delAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 2 a0001c0001t0005g0211
a0001c0001t0005g0346
a0001c0001t0005g0211
a0001c0001t0005g0346
 2 HG02027.hp2
NA18977.hp2
HG02027.hp2
NA18977.hp2
 intron_variant MODIFIER c.-48+10079_-48+1008
others(15): Show 
c.-48+10079_-48+10089delAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 1 a0001c0001t0007g0347
a0001c0001t0007g0347
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.-48+10078_-48+1008
others(16): Show 
c.-48+10078_-48+10089delAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 C
C
 2 a0001c0004t0010g0348
a0001c0033t0007g0248
a0001c0004t0010g0348
a0001c0033t0007g0248
 2 HG01981.hp1
HG03688.hp2
HG01981.hp1
HG03688.hp2
 intron_variant MODIFIER c.-48+10077_-48+1008
others(17): Show 
c.-48+10077_-48+10089delAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(10): Show 
CAAAAAAAAAAAAAAAAA
 C
C
 3 a0001c0015t0002g0212
a0001c0015t0002g0220
a0002c0006t0003g0200
a0001c0015t0002g0212
a0001c0015t0002g0220
a0002c0006t0003g0200
 3 HG04204.hp1
NA19084.hp1
NA19085.hp2
HG04204.hp1
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.-48+10073_-48+1008
others(21): Show 
c.-48+10073_-48+10089delAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 C
C
 6 a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
others(3): Show 
a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0224
a0001c0001t0002g0349
 6 HG00558.hp1
NA18946.hp1
NA18971.hp2
others(3): Show 
HG00558.hp1
NA18946.hp1
NA18971.hp2
NA18978.hp1
NA19058.hp1
NA19076.hp1
 intron_variant MODIFIER c.-48+10072_-48+1008
others(22): Show 
c.-48+10072_-48+10089delAAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 C
C
 1 a0001c0004t0004g0218
a0001c0004t0004g0218
 1 NA19055.hp1
NA19055.hp1
 intron_variant MODIFIER c.-48+10071_-48+1008
others(23): Show 
c.-48+10071_-48+10089delAAAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 C
C
 1 a0001c0001t0002g0249
a0001c0001t0002g0249
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-48+10070_-48+1008
others(24): Show 
c.-48+10070_-48+10089delAAAAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(15): Show 
CAAAAAAAAAAAAAAAAAAAAAA
 C
C
 2 a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0098
a0001c0004t0004g0132
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.-48+10068_-48+1008
others(26): Show 
c.-48+10068_-48+10089delAAAAAAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(16): Show 
CAAAAAAAAAAAAAAAAAAAAAAA
 C
C
 1 a0001c0001t0004g0213
a0001c0001t0004g0213
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.-48+10067_-48+1008
others(27): Show 
c.-48+10067_-48+10089delAAAAAAAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466561 CAAAAAAA
others(19): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAA
 C
C
 3 a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0267
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0267
 3 HG01257.hp2
HG01258.hp1
HG01952.hp2
HG01257.hp2
HG01258.hp1
HG01952.hp2
 intron_variant MODIFIER c.-48+10064_-48+1008
others(30): Show 
c.-48+10064_-48+10089delAAAAAAAAAAAAAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54466561
chr2:54466617 T
T
 G
G
 89 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(86): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 89 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+10099T>G
c.-48+10099T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54466617
chr2:54466731 A
A
 T
T
 1 a0001c0001t0005g0203
a0001c0001t0005g0203
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.-48+10213A>T
c.-48+10213A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54466731
chr2:54466734 T
T
 C
C
 2 a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0171
a0001c0011t0003g0228
 2 HG00140.hp2
HG02738.hp1
HG00140.hp2
HG02738.hp1
 intron_variant MODIFIER c.-48+10216T>C
c.-48+10216T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54466734
chr2:54466741 C
C
 A
A
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+10223C>A
c.-48+10223C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54466741
chr2:54466993 C
C
 G
G
 86 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(83): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 86 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+10475C>G
c.-48+10475C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54466993
chr2:54467000 C
C
 T
T
 1 a0001c0002t0001g0147
a0001c0002t0001g0147
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.-48+10482C>T
c.-48+10482C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467000
chr2:54467014 G
G
 T
T
 126 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
others(123): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 126 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(123): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02615.hp2
HG02698.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+10496G>T
c.-48+10496G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467014
chr2:54467156 A
A
 G
G
 1 a0001c0001t0022g0164
a0001c0001t0022g0164
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.-48+10638A>G
c.-48+10638A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467156
chr2:54467220 C
C
 G
G
 47 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(44): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 47 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(44): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+10702C>G
c.-48+10702C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467220
chr2:54467250 G
G
 A
A
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-48+10732G>A
c.-48+10732G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467250
chr2:54467403 C
C
 T
T
 88 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(85): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 88 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+10885C>T
c.-48+10885C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467403
chr2:54467456 G
G
 C
C
 26 a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0010g0238
others(23): Show 
a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0004t0004g0170
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
 26 HG00738.hp2
HG00741.hp2
HG01123.hp1
others(23): Show 
HG00738.hp2
HG00741.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02109.hp2
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03139.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03669.hp1
NA19030.hp2
 intron_variant MODIFIER c.-48+10938G>C
c.-48+10938G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467456
chr2:54467508 C
C
 G
G
 85 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(82): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 85 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+10990C>G
c.-48+10990C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467508
chr2:54467674 C
C
 T
T
 85 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(82): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 85 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+11156C>T
c.-48+11156C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467674
chr2:54467697 A
A
 G
G
 1 a0001c0001t0019g0031
a0001c0001t0019g0031
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-48+11179A>G
c.-48+11179A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467697
chr2:54467742 T
T
 C
C
 3 a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0267
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0267
 3 HG01257.hp2
HG01258.hp1
HG01952.hp2
HG01257.hp2
HG01258.hp1
HG01952.hp2
 intron_variant MODIFIER c.-48+11224T>C
c.-48+11224T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467742
chr2:54467773 T
T
 A
A
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-48+11255T>A
c.-48+11255T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467773
chr2:54467787 T
T
 C
C
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-48+11269T>C
c.-48+11269T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467787
chr2:54467834 C
C
 G
G
 3 a0001c0007t0013g0137
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0007t0013g0137
a0001c0018t0007g0112
a0001c0018t0042g0027
 3 HG02559.hp2
HG02976.hp2
HG03195.hp2
HG02559.hp2
HG02976.hp2
HG03195.hp2
 intron_variant MODIFIER c.-48+11316C>G
c.-48+11316C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467834
chr2:54467947 G
G
 A
A
 88 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(85): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 88 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+11429G>A
c.-48+11429G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54467947
chr2:54468074 C
C
 G
G
 2 a0001c0001t0002g0219
a0001c0001t0002g0350
a0001c0001t0002g0219
a0001c0001t0002g0350
 2 NA18952.hp2
NA19090.hp1
NA18952.hp2
NA19090.hp1
 intron_variant MODIFIER c.-48+11556C>G
c.-48+11556C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468074
chr2:54468074 C
C
 T
T
 1 a0001c0004t0010g0175
a0001c0004t0010g0175
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.-48+11556C>T
c.-48+11556C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468074
chr2:54468080 G
G
 A
A
 5 a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0002t0047g0279
others(2): Show 
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0029t0007g0290
 5 HG01106.hp1
HG01433.hp1
HG06807.hp2
others(2): Show 
HG01106.hp1
HG01433.hp1
HG06807.hp2
NA18954.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+11562G>A
c.-48+11562G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468080
chr2:54468110 G
G
 A
A
 88 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(85): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 88 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+11592G>A
c.-48+11592G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468110
chr2:54468264 A
A
 G
G
 88 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(85): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 88 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(85): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+11746A>G
c.-48+11746A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468264
chr2:54468315 TAAAATAA
others(1): Show 
TAAAATAAA
 T
T
 3 a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0039g0058
a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0039g0058
 3 HG01255.hp1
HG02622.hp1
NA20752.hp1
HG01255.hp1
HG02622.hp1
NA20752.hp1
 intron_variant MODIFIER c.-48+11809_-48+1181
others(12): Show 
c.-48+11809_-48+11816delATAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54468315
chr2:54468320 TA
TA
 T
T
 83 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(80): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 83 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(80): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+11809delA
c.-48+11809delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54468320
chr2:54468326 AATAAAAA
others(2): Show 
AATAAAAAAT
 A
A
 6 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0013t0015g0255
others(3): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 6 HG01346.hp2
HG02109.hp1
HG03098.hp2
others(3): Show 
HG01346.hp2
HG02109.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+11810_-48+1181
others(13): Show 
c.-48+11810_-48+11818delTAAAAAATA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54468326
chr2:54468336 A
A
 T
T
 6 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0013t0015g0255
others(3): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 6 HG01346.hp2
HG02109.hp1
HG03098.hp2
others(3): Show 
HG01346.hp2
HG02109.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+11818A>T
c.-48+11818A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468336
chr2:54468470 G
G
 A
A
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+11952G>A
c.-48+11952G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468470
chr2:54468481 G
G
 C
C
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+11963G>C
c.-48+11963G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468481
chr2:54468519 A
A
 G
G
 12 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(9): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0103
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
 12 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(9): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+12001A>G
c.-48+12001A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468519
chr2:54468533 T
T
 C
C
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-48+12015T>C
c.-48+12015T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468533
chr2:54468574 A
A
 G
G
 2 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0004
a0001c0005t0003g0005
 2 HG03516.hp1
NA21309.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+12056A>G
c.-48+12056A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468574
chr2:54468624 G
G
 A
A
 1 a0001c0018t0007g0112
a0001c0018t0007g0112
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.-48+12106G>A
c.-48+12106G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468624
chr2:54468800 T
T
 C
C
 217 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(214): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 217 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(214): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+12282T>C
c.-48+12282T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468800
chr2:54468831 C
C
 T
T
 49 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0003g0059
others(46): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 49 HG01167.hp2
HG01255.hp2
HG01256.hp2
others(46): Show 
HG01167.hp2
HG01255.hp2
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02818.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03540.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+12313C>T
c.-48+12313C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468831
chr2:54468900 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+12382C>T
c.-48+12382C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468900
chr2:54468954 A
A
 G
G
 2 a0001c0002t0001g0204
a0001c0004t0004g0318
a0001c0002t0001g0204
a0001c0004t0004g0318
 2 HG00741.hp1
HG01175.hp2
HG00741.hp1
HG01175.hp2
 intron_variant MODIFIER c.-48+12436A>G
c.-48+12436A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54468954
chr2:54469267 T
T
 C
C
 48 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(45): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0010t0002g0199
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 48 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(45): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+12749T>C
c.-48+12749T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469267
chr2:54469416 C
C
 T
T
 1 a0001c0002t0001g0103
a0001c0002t0001g0103
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.-48+12898C>T
c.-48+12898C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469416
chr2:54469444 C
C
 T
T
 1 a0001c0003t0036g0361
a0001c0003t0036g0361
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.-48+12926C>T
c.-48+12926C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469444
chr2:54469572 G
G
 A
A
 1 a0001c0004t0035g0042
a0001c0004t0035g0042
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.-48+13054G>A
c.-48+13054G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469572
chr2:54469573 C
C
 A
A
 180 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
others(177): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 180 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(177): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+13055C>A
c.-48+13055C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469573
chr2:54469592 C
C
 G
G
 98 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
others(95): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0367
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0147
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 98 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(95): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19030.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+13074C>G
c.-48+13074C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469592
chr2:54469612 A
A
 T
T
 1 a0001c0003t0003g0008
a0001c0003t0003g0008
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-48+13094A>T
c.-48+13094A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469612
chr2:54469772 G
G
 A
A
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-48+13254G>A
c.-48+13254G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469772
chr2:54469946 G
G
 A
A
 1 a0001c0002t0048g0025
a0001c0002t0048g0025
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.-48+13428G>A
c.-48+13428G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469946
chr2:54469982 C
C
 T
T
 166 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(163): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0103
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 166 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(163): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+13464C>T
c.-48+13464C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54469982
chr2:54470250 AT
AT
 A
A
 166 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(163): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0103
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 166 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(163): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+13738delT
c.-48+13738delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54470250
chr2:54470459 T
T
 C
C
 1 a0001c0001t0005g0221
a0001c0001t0005g0221
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.-48+13941T>C
c.-48+13941T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470459
chr2:54470475 A
A
 G
G
 1 a0001c0001t0018g0180
a0001c0001t0018g0180
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-48+13957A>G
c.-48+13957A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470475
chr2:54470673 A
A
 G
G
 1 a0002c0006t0003g0016
a0002c0006t0003g0016
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.-48+14155A>G
c.-48+14155A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470673
chr2:54470734 G
G
 C
C
 113 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(110): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0005g0353
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0103
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 113 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(110): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+14216G>C
c.-48+14216G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470734
chr2:54470810 A
A
 C
C
 1 a0001c0002t0006g0313
a0001c0002t0006g0313
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-48+14292A>C
c.-48+14292A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470810
chr2:54470816 C
C
 A
A
 1 a0001c0002t0006g0313
a0001c0002t0006g0313
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-48+14298C>A
c.-48+14298C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470816
chr2:54470828 C
C
 T
T
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
 9 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+14310C>T
c.-48+14310C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470828
chr2:54470829 G
G
 A
A
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.-48+14311G>A
c.-48+14311G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470829
chr2:54470861 T
T
 G
G
 48 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(45): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 48 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(45): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+14343T>G
c.-48+14343T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470861
chr2:54470928 T
T
 G
G
 55 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(52): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+14410T>G
c.-48+14410T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470928
chr2:54470939 T
T
 G
G
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-48+14421T>G
c.-48+14421T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470939
chr2:54470975 G
G
 T
T
 4 a0001c0001t0049g0076
a0001c0008t0026g0364
a0001c0008t0026g0365
others(1): Show 
a0001c0001t0049g0076
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
 4 HG00738.hp1
HG02257.hp2
HG03225.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG03225.hp1
NA20129.hp2
 intron_variant MODIFIER c.-48+14457G>T
c.-48+14457G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470975
chr2:54470976 C
C
 T
T
 4 a0001c0001t0049g0076
a0001c0008t0026g0364
a0001c0008t0026g0365
others(1): Show 
a0001c0001t0049g0076
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
 4 HG00738.hp1
HG02257.hp2
HG03225.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG03225.hp1
NA20129.hp2
 intron_variant MODIFIER c.-48+14458C>T
c.-48+14458C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54470976
chr2:54471055 C
C
 T
T
 8 a0001c0002t0004g0101
a0001c0003t0003g0073
a0001c0003t0003g0074
others(5): Show 
a0001c0002t0004g0101
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0004g0024
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
 8 HG00423.hp1
HG00438.hp1
HG00609.hp2
others(5): Show 
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG02015.hp2
HG02135.hp2
NA18950.hp1
NA18986.hp1
NA19010.hp2
 intron_variant MODIFIER c.-48+14537C>T
c.-48+14537C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471055
chr2:54471173 T
T
 C
C
 292 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(289): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 292 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(289): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+14655T>C
c.-48+14655T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471173
chr2:54471220 C
C
 T
T
 1 a0001c0005t0008g0050
a0001c0005t0008g0050
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.-48+14702C>T
c.-48+14702C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471220
chr2:54471221 G
G
 A
A
 171 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
others(168): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 171 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(168): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+14703G>A
c.-48+14703G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471221
chr2:54471276 G
G
 A
A
 48 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(45): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 48 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(45): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+14758G>A
c.-48+14758G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471276
chr2:54471366 A
A
 G
G
 12 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(9): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0103
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
 12 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(9): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+14848A>G
c.-48+14848A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471366
chr2:54471475 A
A
 AT
AT
 166 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0017
others(163): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0316
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0261
a0001c0003t0003g0292
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0056
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0004c0032t0004g0329
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 166 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(163): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19074.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+14972dupT
c.-48+14972dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471475
chr2:54471475 AT
AT
 A
A
 14 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(11): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0103
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0008t0005g0306
 14 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(11): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+14972delT
c.-48+14972delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471475
chr2:54471500 A
A
 G
G
 1 a0001c0017t0002g0226
a0001c0017t0002g0226
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-48+14982A>G
c.-48+14982A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471500
chr2:54471508 A
A
 G
G
 56 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(53): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 56 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+14990A>G
c.-48+14990A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471508
chr2:54471529 T
T
 C
C
 2 a0001c0001t0002g0367
a0001c0005t0008g0368
a0001c0001t0002g0367
a0001c0005t0008g0368
 2 HG02109.hp2
HG02922.hp1
HG02109.hp2
HG02922.hp1
 intron_variant MODIFIER c.-48+15011T>C
c.-48+15011T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471529
chr2:54471580 A
A
 T
T
 1 a0001c0012t0016g0135
a0001c0012t0016g0135
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-48+15062A>T
c.-48+15062A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471580
chr2:54471682 G
G
 C
C
 5 a0001c0001t0049g0076
a0001c0005t0003g0047
a0001c0008t0026g0364
others(2): Show 
a0001c0001t0049g0076
a0001c0005t0003g0047
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
 5 HG00738.hp1
HG02257.hp2
HG03225.hp1
others(2): Show 
HG00738.hp1
HG02257.hp2
HG03225.hp1
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-48+15164G>C
c.-48+15164G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471682
chr2:54471800 A
A
 ATTTT
ATTTT
 10 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(7): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0103
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0366
a0001c0005t0012g0369
 10 HG01884.hp2
HG02258.hp1
HG02698.hp1
others(7): Show 
HG01884.hp2
HG02258.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+15298_-48+1530
others(8): Show 
c.-48+15298_-48+15301dupTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471800 A
A
 ATTTTT
ATTTTT
 41 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(38): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0008t0005g0306
a0001c0011t0003g0171
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0135
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0025t0003g0352
a0001c0026t0006g0102
a0007c0024t0009g0232
 41 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(38): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp2
HG01168.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02818.hp2
HG02897.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+15297_-48+1530
others(9): Show 
c.-48+15297_-48+15301dupTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471800 A
A
 ATTTTTT
ATTTTTT
 53 a0001c0001t0003g0223
a0001c0001t0019g0183
a0001c0002t0001g0010
others(50): Show 
a0001c0001t0003g0223
a0001c0001t0019g0183
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0320
a0001c0003t0003g0360
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0021g0052
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0007t0013g0137
a0001c0011t0003g0268
a0001c0012t0016g0189
a0001c0014t0001g0029
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
 53 HG00423.hp1
HG01109.hp1
HG01255.hp2
others(50): Show 
HG00423.hp1
HG01109.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01884.hp1
HG02109.hp1
HG02165.hp1
HG02280.hp1
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02895.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18940.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18989.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19043.hp1
NA19058.hp2
NA19065.hp1
NA19067.hp1
NA19076.hp2
NA19082.hp1
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+15296_-48+1530
others(10): Show 
c.-48+15296_-48+15301dupTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471800 A
A
 ATTTTTTT
ATTTTTTT
 33 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0003g0059
others(30): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0310
a0001c0002t0001g0331
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0025g0250
a0001c0008t0026g0365
a0001c0011t0003g0228
a0001c0012t0016g0026
a0001c0012t0016g0153
a0001c0014t0001g0013
a0001c0018t0007g0112
a0002c0006t0003g0014
a0002c0006t0003g0152
a0002c0006t0003g0185
a0008c0030t0030g0174
 33 HG00738.hp1
HG01167.hp2
HG02055.hp2
others(30): Show 
HG00738.hp1
HG01167.hp2
HG02055.hp2
HG02080.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02630.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02976.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18944.hp2
NA18955.hp2
NA18963.hp1
NA18985.hp2
NA18992.hp2
NA19000.hp1
NA19012.hp1
NA19074.hp2
NA19083.hp1
NA19090.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.-48+15295_-48+1530
others(11): Show 
c.-48+15295_-48+15301dupTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471800 A
A
 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 49 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(46): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0270
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0287
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 49 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(46): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp1
HG01106.hp2
HG01192.hp2
HG01257.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG02004.hp1
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18986.hp2
NA18987.hp1
NA18993.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19081.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+15292_-48+1530
others(14): Show 
c.-48+15292_-48+15301dupTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471800 A
A
 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 16 a0001c0001t0007g0196
a0001c0001t0007g0296
a0001c0001t0022g0118
others(13): Show 
a0001c0001t0007g0196
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0002t0001g0067
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0121
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0312
a0001c0002t0006g0276
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0277
a0001c0007t0001g0119
a0001c0009t0045g0298
 16 HG00735.hp1
HG01081.hp1
HG01106.hp1
others(13): Show 
HG00735.hp1
HG01081.hp1
HG01106.hp1
HG01433.hp1
HG01978.hp2
HG02071.hp1
HG02300.hp1
HG02486.hp1
NA18956.hp2
NA18978.hp2
NA18989.hp2
NA18992.hp1
NA19000.hp2
NA19002.hp2
NA19084.hp2
NA19085.hp1
 intron_variant MODIFIER c.-48+15291_-48+1530
others(15): Show 
c.-48+15291_-48+15301dupTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471800 A
A
 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 1 a0001c0002t0005g0122
a0001c0002t0005g0122
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.-48+15290_-48+1530
others(16): Show 
c.-48+15290_-48+15301dupTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471800 AT
AT
 A
A
 122 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0017
others(119): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0322
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0354
a0001c0001t0007g0019
a0001c0001t0007g0347
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0164
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0002t0001g0111
a0001c0002t0001g0133
a0001c0002t0001g0204
a0001c0002t0006g0314
a0001c0002t0029g0339
a0001c0003t0003g0261
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0008g0056
a0001c0009t0007g0272
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0033t0007g0248
a0002c0006t0003g0141
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
 122 HG00099.hp2
HG00323.hp1
HG00408.hp2
others(119): Show 
HG00099.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00639.hp2
HG00735.hp2
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03490.hp1
HG03540.hp1
HG03654.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18940.hp2
NA18945.hp1
NA18946.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19010.hp1
NA19054.hp1
NA19055.hp1
NA19058.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.-48+15301delT
c.-48+15301delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471800 ATTT
ATTT
 A
A
 27 a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0019g0031
others(24): Show 
a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0019g0031
a0001c0001t0050g0242
a0001c0002t0001g0147
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0004t0004g0170
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0013g0043
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
 27 HG00738.hp2
HG00741.hp2
HG01123.hp1
others(24): Show 
HG00738.hp2
HG00741.hp2
HG01123.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02109.hp2
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03669.hp1
NA19030.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.-48+15299_-48+1530
others(7): Show 
c.-48+15299_-48+15301delTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471800
chr2:54471884 T
T
 C
C
 68 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(65): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 68 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+15366T>C
c.-48+15366T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471884
chr2:54471923 T
T
 C
C
 1 a0001c0001t0002g0210
a0001c0001t0002g0210
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.-48+15405T>C
c.-48+15405T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54471923
chr2:54471930 AACTTC
AACTTC
 A
A
 68 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(65): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 68 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+15417_-48+1542
others(9): Show 
c.-48+15417_-48+15421delCACTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54471930
chr2:54472022 G
G
 GT
GT
 59 a0001c0001t0002g0017
a0001c0001t0002g0021
a0001c0001t0002g0035
others(56): Show 
a0001c0001t0002g0017
a0001c0001t0002g0021
a0001c0001t0002g0035
a0001c0001t0002g0169
a0001c0001t0002g0216
a0001c0001t0002g0301
a0001c0001t0002g0338
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0106
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0342
a0001c0001t0007g0347
a0001c0001t0018g0127
a0001c0001t0022g0164
a0001c0001t0039g0058
a0001c0001t0041g0247
a0001c0002t0001g0133
a0001c0003t0003g0261
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0266
a0001c0004t0004g0317
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0005
a0001c0010t0017g0198
a0001c0017t0002g0226
a0001c0019t0012g0246
a0001c0020t0002g0034
a0002c0006t0003g0141
a0003c0031t0004g0063
a0004c0032t0004g0329
 59 HG00323.hp1
HG00609.hp1
HG00735.hp2
others(56): Show 
HG00323.hp1
HG00609.hp1
HG00735.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01257.hp2
HG01261.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG02040.hp2
HG02083.hp2
HG02145.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03688.hp2
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp2
NA18945.hp1
NA18946.hp1
NA18952.hp1
NA18955.hp1
NA18977.hp2
NA18979.hp1
NA18985.hp1
NA18994.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+15527dupT
c.-48+15527dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 G
G
 GTT
GTT
 16 a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0004g0125
others(13): Show 
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0004g0125
a0001c0001t0014g0097
a0001c0001t0049g0076
a0001c0004t0004g0068
a0001c0004t0004g0265
a0001c0004t0004g0267
a0001c0004t0010g0175
a0001c0005t0003g0004
a0001c0005t0003g0047
a0001c0005t0008g0056
a0001c0012t0016g0026
a0001c0016t0005g0064
a0001c0033t0007g0248
a0002c0006t0003g0200
 16 HG00438.hp2
HG00738.hp1
HG01258.hp1
others(13): Show 
HG00438.hp2
HG00738.hp1
HG01258.hp1
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02572.hp2
HG03225.hp1
HG03490.hp1
HG03516.hp1
HG03654.hp1
HG03927.hp1
HG04204.hp1
NA18522.hp2
NA19054.hp1
NA19055.hp2
 intron_variant MODIFIER c.-48+15526_-48+1552
others(6): Show 
c.-48+15526_-48+15527dupTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 G
G
 GTTT
GTTT
 54 a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
others(51): Show 
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0007g0270
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0067
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0021t0001g0197
a0001c0023t0005g0283
a0010c0034t0001g0002
 54 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(51): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01257.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02257.hp2
HG02300.hp1
HG02615.hp2
HG02809.hp2
HG02895.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03492.hp2
HG03540.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19002.hp2
NA19012.hp2
NA19043.hp1
NA19056.hp1
NA19081.hp1
NA19085.hp1
NA20129.hp2
 intron_variant MODIFIER c.-48+15525_-48+1552
others(7): Show 
c.-48+15525_-48+15527dupTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 G
G
 GTTTT
GTTTT
 45 a0001c0001t0001g0087
a0001c0001t0002g0120
a0001c0001t0005g0291
others(42): Show 
a0001c0001t0001g0087
a0001c0001t0002g0120
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0007g0196
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0077
a0001c0002t0001g0086
a0001c0002t0001g0124
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0287
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0330
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0277
a0001c0007t0001g0119
a0001c0009t0010g0088
a0001c0014t0037g0011
a0001c0029t0007g0290
a0005c0028t0001g0006
a0009c0022t0051g0078
 45 HG00140.hp1
HG01106.hp1
HG01192.hp2
others(42): Show 
HG00140.hp1
HG01106.hp1
HG01192.hp2
HG01433.hp1
HG02055.hp2
HG02080.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG03491.hp1
HG03491.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18950.hp2
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18987.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19084.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+15524_-48+1552
others(8): Show 
c.-48+15524_-48+15527dupTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 G
G
 GTTTTT
GTTTTT
 13 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(10): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0002t0001g0146
a0001c0002t0001g0307
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0011g0253
 13 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(10): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG02886.hp2
HG03209.hp2
HG03579.hp1
HG06807.hp1
NA18522.hp1
NA18944.hp2
NA18963.hp1
NA19001.hp1
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+15523_-48+1552
others(9): Show 
c.-48+15523_-48+15527dupTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 G
G
 GTTTTTT
GTTTTTT
 24 a0001c0003t0003g0036
a0001c0003t0003g0256
a0001c0003t0003g0262
others(21): Show 
a0001c0003t0003g0036
a0001c0003t0003g0256
a0001c0003t0003g0262
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0007t0001g0302
a0001c0007t0013g0137
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0018t0007g0112
a0001c0018t0042g0027
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
 24 HG01256.hp2
HG01346.hp2
HG01884.hp1
others(21): Show 
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02647.hp1
HG02897.hp2
HG02976.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp1
HG04228.hp1
NA18906.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18985.hp2
NA19005.hp1
NA19058.hp2
NA19090.hp2
 intron_variant MODIFIER c.-48+15522_-48+1552
others(10): Show 
c.-48+15522_-48+15527dupTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 G
G
 GTTTTTTT
GTTTTTTT
 60 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(57): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0010g0238
a0001c0001t0019g0241
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0048g0025
a0001c0003t0003g0037
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0257
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0007t0013g0043
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0025t0003g0352
a0002c0006t0003g0151
a0002c0006t0003g0179
a0007c0024t0009g0232
a0008c0030t0030g0174
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00609.hp2
HG00738.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
NA18906.hp2
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18989.hp1
NA18990.hp2
NA18994.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp2
NA19083.hp1
NA19088.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+15521_-48+1552
others(11): Show 
c.-48+15521_-48+15527dupTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 G
G
 GTTTTTTT
others(1): Show 
GTTTTTTTT
 24 a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0159
others(21): Show 
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0314
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0004t0004g0358
a0001c0005t0043g0039
a0001c0007t0013g0044
a0001c0008t0005g0243
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0012t0016g0135
a0001c0026t0006g0102
a0006c0027t0003g0075
 24 HG00423.hp1
HG00438.hp1
HG01123.hp1
others(21): Show 
HG00423.hp1
HG00438.hp1
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01981.hp2
HG02135.hp2
HG02145.hp2
HG02738.hp1
HG02886.hp1
HG03471.hp2
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18940.hp1
NA18986.hp1
NA19010.hp2
NA19030.hp1
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.-48+15520_-48+1552
others(12): Show 
c.-48+15520_-48+15527dupTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 G
G
 GTTTTTTT
others(3): Show 
GTTTTTTTTTT
 1 a0001c0001t0019g0031
a0001c0001t0019g0031
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-48+15518_-48+1552
others(14): Show 
c.-48+15518_-48+15527dupTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472022 GTTTT
GTTTT
 G
G
 12 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(9): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0103
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
 12 HG01109.hp2
HG02258.hp1
HG02698.hp1
others(9): Show 
HG01109.hp2
HG02258.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03516.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+15524_-48+1552
others(8): Show 
c.-48+15524_-48+15527delTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54472022
chr2:54472155 G
G
 C
C
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+15637G>C
c.-48+15637G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472155
chr2:54472156 T
T
 C
C
 12 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(9): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0103
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
 12 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(9): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+15638T>C
c.-48+15638T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472156
chr2:54472167 A
A
 G
G
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-48+15649A>G
c.-48+15649A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472167
chr2:54472284 A
A
 C
C
 68 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0003g0059
others(65): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0103
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0008t0005g0306
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 68 HG01109.hp2
HG01167.hp2
HG01255.hp2
others(65): Show 
HG01109.hp2
HG01167.hp2
HG01255.hp2
HG01256.hp2
HG01884.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG04228.hp1
HG06807.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+15766A>C
c.-48+15766A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472284
chr2:54472426 A
A
 G
G
 48 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(45): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 48 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(45): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+15908A>G
c.-48+15908A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472426
chr2:54472476 T
T
 G
G
 1 a0001c0004t0010g0348
a0001c0004t0010g0348
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-48+15958T>G
c.-48+15958T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472476
chr2:54472503 T
T
 A
A
 9 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0005t0008g0176
others(6): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0005t0008g0176
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
 9 HG02280.hp2
HG02451.hp1
HG02809.hp1
others(6): Show 
HG02280.hp2
HG02451.hp1
HG02809.hp1
HG02965.hp2
HG03139.hp2
HG03453.hp1
HG03471.hp2
NA19030.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+15985T>A
c.-48+15985T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472503
chr2:54472514 T
T
 G
G
 167 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(164): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 167 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(164): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+15996T>G
c.-48+15996T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472514
chr2:54472714 G
G
 T
T
 2 a0001c0003t0003g0304
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0135
 2 HG01884.hp2
NA19030.hp1
HG01884.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+16196G>T
c.-48+16196G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472714
chr2:54472749 T
T
 C
C
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-48+16231T>C
c.-48+16231T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472749
chr2:54472764 T
T
 C
C
 1 a0001c0001t0020g0023
a0001c0001t0020g0023
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.-48+16246T>C
c.-48+16246T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472764
chr2:54472776 A
A
 T
T
 6 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0013t0015g0255
others(3): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 6 HG01346.hp2
HG02109.hp1
HG03098.hp2
others(3): Show 
HG01346.hp2
HG02109.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+16258A>T
c.-48+16258A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472776
chr2:54472989 C
C
 T
T
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-48+16471C>T
c.-48+16471C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54472989
chr2:54473128 G
G
 T
T
 2 a0001c0001t0005g0344
a0001c0002t0001g0133
a0001c0001t0005g0344
a0001c0002t0001g0133
 2 HG01515.hp1
HG02683.hp1
HG01515.hp1
HG02683.hp1
 intron_variant MODIFIER c.-48+16610G>T
c.-48+16610G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473128
chr2:54473310 T
T
 C
C
 12 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(9): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0103
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
 12 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(9): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+16792T>C
c.-48+16792T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473310
chr2:54473337 G
G
 T
T
 1 a0001c0001t0004g0093
a0001c0001t0004g0093
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.-48+16819G>T
c.-48+16819G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473337
chr2:54473503 G
G
 GT
GT
 84 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(81): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 84 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(81): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+16995dupT
c.-48+16995dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54473503
chr2:54473516 GCA
GCA
 G
G
 69 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(66): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 69 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+17004_-48+1700
others(6): Show 
c.-48+17004_-48+17005delAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54473516
chr2:54473727 A
A
 G
G
 2 a0001c0001t0005g0344
a0001c0002t0001g0133
a0001c0001t0005g0344
a0001c0002t0001g0133
 2 HG01515.hp1
HG02683.hp1
HG01515.hp1
HG02683.hp1
 intron_variant MODIFIER c.-48+17209A>G
c.-48+17209A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473727
chr2:54473737 C
C
 T
T
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-48+17219C>T
c.-48+17219C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473737
chr2:54473747 G
G
 A
A
 30 a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0019g0031
others(27): Show 
a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0147
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0004t0004g0170
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
 30 HG00738.hp2
HG00741.hp2
HG01123.hp1
others(27): Show 
HG00738.hp2
HG00741.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03669.hp1
NA19030.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.-48+17229G>A
c.-48+17229G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473747
chr2:54473767 A
A
 G
G
 5 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(2): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
 5 HG02886.hp2
HG03471.hp1
HG03579.hp1
others(2): Show 
HG02886.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+17249A>G
c.-48+17249A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473767
chr2:54473830 T
T
 C
C
 48 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(45): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 48 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(45): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+17312T>C
c.-48+17312T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473830
chr2:54473857 A
A
 G
G
 5 a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0002t0047g0279
others(2): Show 
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0029t0007g0290
 5 HG01106.hp1
HG01433.hp1
HG06807.hp2
others(2): Show 
HG01106.hp1
HG01433.hp1
HG06807.hp2
NA18954.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+17339A>G
c.-48+17339A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54473857
chr2:54474019 C
C
 T
T
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.-48+17501C>T
c.-48+17501C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474019
chr2:54474242 C
C
 A
A
 40 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(37): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 40 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp1
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+17724C>A
c.-48+17724C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474242
chr2:54474263 C
C
 T
T
 2 a0001c0001t0049g0076
a0001c0012t0016g0026
a0001c0001t0049g0076
a0001c0012t0016g0026
 2 HG00738.hp1
HG03225.hp1
HG00738.hp1
HG03225.hp1
 intron_variant MODIFIER c.-48+17745C>T
c.-48+17745C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474263
chr2:54474293 C
C
 G
G
 1 a0001c0001t0022g0118
a0001c0001t0022g0118
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.-48+17775C>G
c.-48+17775C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474293
chr2:54474360 T
T
 TAAAAGTG
others(316): Show 
TAAAAGTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT
GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG
GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG
GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG
AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC
CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAA
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-48+17852_-48+1785
others(327): Show 
c.-48+17852_-48+17853insGCCGGGCGCGGTGGCTCACGCCTGTA
ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT
CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA
AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGCTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54474360
chr2:54474360 T
T
 TAAAAGTG
others(318): Show 
TAAAAGTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT
GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG
GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG
GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG
AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC
CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0005t0043g0039
a0001c0018t0007g0112
a0001c0005t0043g0039
a0001c0018t0007g0112
 2 HG02886.hp1
HG02976.hp2
HG02886.hp1
HG02976.hp2
 intron_variant MODIFIER c.-48+17852_-48+1785
others(329): Show 
c.-48+17852_-48+17853insGCCGGGCGCGGTGGCTCACGCCTGTA
ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT
CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA
AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGCTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54474360
chr2:54474360 T
T
 TAAAAGTG
others(319): Show 
TAAAAGTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT
GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG
GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG
GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG
AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC
CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0018t0042g0027
a0001c0018t0042g0027
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.-48+17852_-48+1785
others(330): Show 
c.-48+17852_-48+17853insGCCGGGCGCGGTGGCTCACGCCTGTA
ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT
CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA
AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGCTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54474360
chr2:54474360 T
T
 TAAAAGTG
others(319): Show 
TAAAAGTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT
GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG
GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG
GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG
AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGC
CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0007t0013g0137
a0001c0007t0013g0137
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-48+17852_-48+1785
others(330): Show 
c.-48+17852_-48+17853insGCCGGGCGCGGTGGCTCACGCCTGTA
ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT
CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA
AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA
GCCGAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGCTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54474360
chr2:54474374 G
G
 A
A
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-48+17856G>A
c.-48+17856G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474374
chr2:54474723 A
A
 C
C
 13 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(10): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0008t0005g0306
 13 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(10): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+18205A>C
c.-48+18205A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474723
chr2:54474809 T
T
 C
C
 1 a0001c0001t0002g0017
a0001c0001t0002g0017
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.-48+18291T>C
c.-48+18291T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474809
chr2:54474837 A
A
 G
G
 1 a0001c0001t0005g0342
a0001c0001t0005g0342
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.-48+18319A>G
c.-48+18319A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474837
chr2:54474944 G
G
 A
A
 1 a0001c0010t0017g0162
a0001c0010t0017g0162
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.-48+18426G>A
c.-48+18426G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54474944
chr2:54475003 A
A
 G
G
 1 a0001c0012t0016g0189
a0001c0012t0016g0189
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.-48+18485A>G
c.-48+18485A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475003
chr2:54475028 A
A
 G
G
 2 a0001c0005t0043g0039
a0008c0030t0030g0174
a0001c0005t0043g0039
a0008c0030t0030g0174
 2 HG02717.hp2
HG02886.hp1
HG02717.hp2
HG02886.hp1
 intron_variant MODIFIER c.-48+18510A>G
c.-48+18510A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475028
chr2:54475131 G
G
 A
A
 1 a0001c0005t0008g0062
a0001c0005t0008g0062
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-48+18613G>A
c.-48+18613G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475131
chr2:54475208 A
A
 G
G
 48 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(45): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 48 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(45): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+18690A>G
c.-48+18690A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475208
chr2:54475279 T
T
 C
C
 1 a0006c0027t0003g0075
a0006c0027t0003g0075
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-48+18761T>C
c.-48+18761T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475279
chr2:54475339 C
C
 T
T
 5 a0001c0001t0049g0076
a0001c0003t0003g0304
a0001c0008t0026g0365
others(2): Show 
a0001c0001t0049g0076
a0001c0003t0003g0304
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
 5 HG00738.hp1
HG01884.hp2
HG03225.hp1
others(2): Show 
HG00738.hp1
HG01884.hp2
HG03225.hp1
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.-48+18821C>T
c.-48+18821C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475339
chr2:54475460 G
G
 T
T
 5 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
others(2): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0008t0005g0306
 5 HG02055.hp1
HG02970.hp2
HG02976.hp1
others(2): Show 
HG02055.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
 intron_variant MODIFIER c.-48+18942G>T
c.-48+18942G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475460
chr2:54475476 C
C
 T
T
 1 a0001c0003t0003g0037
a0001c0003t0003g0037
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.-48+18958C>T
c.-48+18958C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475476
chr2:54475528 G
G
 A
A
 13 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(10): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0008t0005g0306
 13 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(10): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+19010G>A
c.-48+19010G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475528
chr2:54475577 G
G
 C
C
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+19059G>C
c.-48+19059G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475577
chr2:54475595 C
C
 T
T
 2 a0001c0001t0002g0367
a0001c0005t0008g0368
a0001c0001t0002g0367
a0001c0005t0008g0368
 2 HG02109.hp2
HG02922.hp1
HG02109.hp2
HG02922.hp1
 intron_variant MODIFIER c.-48+19077C>T
c.-48+19077C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475595
chr2:54475808 A
A
 T
T
 1 a0001c0004t0004g0318
a0001c0004t0004g0318
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.-48+19290A>T
c.-48+19290A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475808
chr2:54475855 A
A
 G
G
 5 a0001c0001t0049g0076
a0001c0003t0003g0304
a0001c0008t0026g0365
others(2): Show 
a0001c0001t0049g0076
a0001c0003t0003g0304
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
 5 HG00738.hp1
HG01884.hp2
HG03225.hp1
others(2): Show 
HG00738.hp1
HG01884.hp2
HG03225.hp1
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.-48+19337A>G
c.-48+19337A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475855
chr2:54475911 C
C
 G
G
 43 a0001c0001t0002g0351
a0001c0001t0004g0091
a0001c0002t0001g0231
others(40): Show 
a0001c0001t0002g0351
a0001c0001t0004g0091
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 43 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(40): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp1
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+19393C>G
c.-48+19393C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475911
chr2:54475977 A
A
 G
G
 70 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(67): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 70 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(67): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+19459A>G
c.-48+19459A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475977
chr2:54475988 A
A
 C
C
 3 a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
 3 HG02647.hp2
HG02922.hp2
NA20129.hp1
HG02647.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.-48+19470A>C
c.-48+19470A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54475988
chr2:54476058 C
C
 T
T
 1 a0001c0002t0006g0314
a0001c0002t0006g0314
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.-48+19540C>T
c.-48+19540C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476058
chr2:54476072 G
G
 A
A
 5 a0001c0001t0049g0076
a0001c0003t0003g0304
a0001c0008t0026g0365
others(2): Show 
a0001c0001t0049g0076
a0001c0003t0003g0304
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
 5 HG00738.hp1
HG01884.hp2
HG03225.hp1
others(2): Show 
HG00738.hp1
HG01884.hp2
HG03225.hp1
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.-48+19554G>A
c.-48+19554G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476072
chr2:54476080 G
G
 T
T
 2 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0004
a0001c0005t0003g0005
 2 HG03516.hp1
NA21309.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+19562G>T
c.-48+19562G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476080
chr2:54476208 G
G
 T
T
 278 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(275): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0039g0058
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 278 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(275): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+19690G>T
c.-48+19690G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476208
chr2:54476218 T
T
 C
C
 17 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(14): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0008t0005g0306
 17 HG01109.hp2
HG01167.hp2
HG01255.hp2
others(14): Show 
HG01109.hp2
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02258.hp1
HG02451.hp2
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03669.hp2
HG06807.hp1
NA20905.hp2
 intron_variant MODIFIER c.-48+19700T>C
c.-48+19700T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476218
chr2:54476306 A
A
 G
G
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.-48+19788A>G
c.-48+19788A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476306
chr2:54476507 C
C
 T
T
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+19989C>T
c.-48+19989C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476507
chr2:54476534 C
C
 T
T
 2 a0001c0001t0002g0219
a0001c0001t0002g0350
a0001c0001t0002g0219
a0001c0001t0002g0350
 2 NA18952.hp2
NA19090.hp1
NA18952.hp2
NA19090.hp1
 intron_variant MODIFIER c.-48+20016C>T
c.-48+20016C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476534
chr2:54476640 C
C
 T
T
 5 a0001c0001t0007g0196
a0001c0004t0004g0193
a0001c0004t0004g0194
others(2): Show 
a0001c0001t0007g0196
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 5 NA18945.hp2
NA18957.hp1
NA18993.hp1
others(2): Show 
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA19000.hp2
NA19084.hp2
 intron_variant MODIFIER c.-48+20122C>T
c.-48+20122C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476640
chr2:54476807 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+20289A>G
c.-48+20289A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476807
chr2:54476842 T
T
 C
C
 83 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(80): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 83 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(80): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+20324T>C
c.-48+20324T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476842
chr2:54476861 T
T
 C
C
 1 a0001c0001t0002g0249
a0001c0001t0002g0249
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-48+20343T>C
c.-48+20343T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476861
chr2:54476922 C
C
 T
T
 2 a0001c0005t0043g0039
a0008c0030t0030g0174
a0001c0005t0043g0039
a0008c0030t0030g0174
 2 HG02717.hp2
HG02886.hp1
HG02717.hp2
HG02886.hp1
 intron_variant MODIFIER c.-48+20404C>T
c.-48+20404C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54476922
chr2:54477011 A
A
 G
G
 1 a0001c0003t0009g0234
a0001c0003t0009g0234
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.-48+20493A>G
c.-48+20493A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477011
chr2:54477016 G
G
 GT
GT
 235 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(232): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 235 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(232): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+20508dupT
c.-48+20508dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54477016
chr2:54477066 G
G
 A
A
 90 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(87): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 90 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(87): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+20548G>A
c.-48+20548G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477066
chr2:54477092 A
A
 T
T
 1 a0001c0001t0019g0031
a0001c0001t0019g0031
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-48+20574A>T
c.-48+20574A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477092
chr2:54477112 G
G
 A
A
 11 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(8): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
 11 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(8): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+20594G>A
c.-48+20594G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477112
chr2:54477113 G
G
 T
T
 1 a0001c0001t0049g0076
a0001c0001t0049g0076
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.-48+20595G>T
c.-48+20595G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477113
chr2:54477186 T
T
 C
C
 1 a0001c0012t0016g0153
a0001c0012t0016g0153
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.-48+20668T>C
c.-48+20668T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477186
chr2:54477400 C
C
 CT
CT
 9 a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
others(6): Show 
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0004t0004g0277
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
 9 HG00738.hp1
HG01884.hp2
HG02257.hp2
others(6): Show 
HG00738.hp1
HG01884.hp2
HG02257.hp2
HG02280.hp2
HG03225.hp1
NA19000.hp2
NA19030.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+20897dupT
c.-48+20897dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54477400
chr2:54477400 CT
CT
 C
C
 66 a0001c0001t0002g0007
a0001c0001t0002g0351
a0001c0001t0005g0221
others(63): Show 
a0001c0001t0002g0007
a0001c0001t0002g0351
a0001c0001t0005g0221
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0149
a0001c0002t0006g0159
a0001c0002t0006g0299
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0069
a0001c0004t0004g0107
a0001c0004t0004g0266
a0001c0004t0004g0358
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0008t0005g0306
a0001c0009t0007g0288
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 66 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02135.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02630.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18968.hp2
NA18971.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19000.hp1
NA19002.hp2
NA19010.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+20897delT
c.-48+20897delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54477400
chr2:54477555 A
A
 G
G
 1 a0001c0033t0007g0248
a0001c0033t0007g0248
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.-48+21037A>G
c.-48+21037A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477555
chr2:54477715 C
C
 T
T
 5 a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0018t0007g0112
others(2): Show 
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0018t0007g0112
a0001c0018t0042g0027
a0008c0030t0030g0174
 5 HG02559.hp2
HG02717.hp2
HG02886.hp1
others(2): Show 
HG02559.hp2
HG02717.hp2
HG02886.hp1
HG02976.hp2
HG03195.hp2
 intron_variant MODIFIER c.-48+21197C>T
c.-48+21197C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477715
chr2:54477728 A
A
 G
G
 1 a0001c0007t0001g0081
a0001c0007t0001g0081
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.-48+21210A>G
c.-48+21210A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477728
chr2:54477779 C
C
 T
T
 1 a0001c0002t0006g0313
a0001c0002t0006g0313
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-48+21261C>T
c.-48+21261C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477779
chr2:54477787 C
C
 T
T
 1 a0001c0001t0004g0070
a0001c0001t0004g0070
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.-48+21269C>T
c.-48+21269C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477787
chr2:54477834 C
C
 T
T
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
 9 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+21316C>T
c.-48+21316C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477834
chr2:54477870 C
C
 T
T
 69 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(66): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 69 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+21352C>T
c.-48+21352C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54477870
chr2:54477910 C
C
 CA
CA
 30 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(27): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0008c0030t0030g0174
 30 HG01346.hp2
HG01884.hp1
HG02109.hp1
others(27): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03579.hp1
HG03669.hp2
NA18522.hp1
NA18906.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+21403dupA
c.-48+21403dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54477910
chr2:54478053 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+21535C>T
c.-48+21535C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478053
chr2:54478081 A
A
 G
G
 1 a0001c0001t0049g0076
a0001c0001t0049g0076
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.-48+21563A>G
c.-48+21563A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478081
chr2:54478151 C
C
 G
G
 2 a0001c0001t0004g0130
a0001c0001t0004g0143
a0001c0001t0004g0130
a0001c0001t0004g0143
 2 NA19062.hp1
NA19066.hp2
NA19062.hp1
NA19066.hp2
 intron_variant MODIFIER c.-48+21633C>G
c.-48+21633C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478151
chr2:54478156 C
C
 T
T
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.-48+21638C>T
c.-48+21638C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478156
chr2:54478176 C
C
 T
T
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.-48+21658C>T
c.-48+21658C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478176
chr2:54478217 C
C
 T
T
 7 a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
others(4): Show 
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0033g0172
a0007c0024t0009g0232
 7 NA18940.hp1
NA18954.hp2
NA18982.hp1
others(4): Show 
NA18940.hp1
NA18954.hp2
NA18982.hp1
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
 intron_variant MODIFIER c.-48+21699C>T
c.-48+21699C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478217
chr2:54478241 T
T
 G
G
 1 a0001c0005t0011g0051
a0001c0005t0011g0051
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-48+21723T>G
c.-48+21723T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478241
chr2:54478282 G
G
 A
A
 2 a0001c0016t0005g0064
a0002c0006t0003g0200
a0001c0016t0005g0064
a0002c0006t0003g0200
 2 HG03654.hp1
HG04204.hp1
HG03654.hp1
HG04204.hp1
 intron_variant MODIFIER c.-48+21764G>A
c.-48+21764G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478282
chr2:54478367 C
C
 G
G
 1 a0001c0003t0003g0138
a0001c0003t0003g0138
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-48+21849C>G
c.-48+21849C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478367
chr2:54478382 C
C
 A
A
 1 a0001c0001t0005g0344
a0001c0001t0005g0344
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.-48+21864C>A
c.-48+21864C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478382
chr2:54478383 C
C
 T
T
 1 a0001c0005t0003g0182
a0001c0005t0003g0182
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-48+21865C>T
c.-48+21865C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478383
chr2:54478606 C
C
 T
T
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-48+22088C>T
c.-48+22088C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478606
chr2:54478656 A
A
 G
G
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+22138A>G
c.-48+22138A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478656
chr2:54478866 A
A
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
 3 HG03654.hp1
HG04204.hp1
HG04204.hp2
HG03654.hp1
HG04204.hp1
HG04204.hp2
 intron_variant MODIFIER c.-48+22348A>C
c.-48+22348A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478866
chr2:54478914 G
G
 GTA
GTA
 67 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(64): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 67 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(64): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+22408_-48+2240
others(6): Show 
c.-48+22408_-48+22409dupAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54478914
chr2:54478924 A
A
 G
G
 9 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0005t0008g0176
others(6): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0005t0008g0176
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
 9 HG02280.hp2
HG02451.hp1
HG02809.hp1
others(6): Show 
HG02280.hp2
HG02451.hp1
HG02809.hp1
HG02965.hp2
HG03139.hp2
HG03453.hp1
HG03471.hp2
NA19030.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+22406A>G
c.-48+22406A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478924
chr2:54478955 C
C
 T
T
 143 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(140): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0005g0309
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 143 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(140): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+22437C>T
c.-48+22437C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478955
chr2:54478983 A
A
 T
T
 1 a0001c0001t0029g0100
a0001c0001t0029g0100
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.-48+22465A>T
c.-48+22465A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54478983
chr2:54479019 A
A
 G
G
 12 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
others(9): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 12 HG01346.hp2
HG01884.hp1
HG02109.hp1
others(9): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+22501A>G
c.-48+22501A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479019
chr2:54479205 G
G
 A
A
 1 a0001c0004t0004g0318
a0001c0004t0004g0318
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.-48+22687G>A
c.-48+22687G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479205
chr2:54479247 T
T
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
 3 HG03654.hp1
HG04204.hp1
HG04204.hp2
HG03654.hp1
HG04204.hp1
HG04204.hp2
 intron_variant MODIFIER c.-48+22729T>G
c.-48+22729T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479247
chr2:54479283 C
C
 A
A
 5 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
others(2): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0008t0005g0306
 5 HG02055.hp1
HG02970.hp2
HG02976.hp1
others(2): Show 
HG02055.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
 intron_variant MODIFIER c.-48+22765C>A
c.-48+22765C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479283
chr2:54479291 T
T
 C
C
 1 a0001c0002t0001g0133
a0001c0002t0001g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.-48+22773T>C
c.-48+22773T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479291
chr2:54479339 A
A
 G
G
 1 a0001c0019t0012g0252
a0001c0019t0012g0252
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-48+22821A>G
c.-48+22821A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479339
chr2:54479390 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+22872A>G
c.-48+22872A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479390
chr2:54479499 T
T
 C
C
 1 a0001c0005t0021g0052
a0001c0005t0021g0052
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.-48+22981T>C
c.-48+22981T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479499
chr2:54479552 C
C
 T
T
 1 a0001c0001t0002g0249
a0001c0001t0002g0249
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-48+23034C>T
c.-48+23034C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479552
chr2:54479617 A
A
 G
G
 1 a0001c0001t0002g0208
a0001c0001t0002g0208
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.-48+23099A>G
c.-48+23099A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479617
chr2:54479763 A
A
 T
T
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-48+23245A>T
c.-48+23245A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479763
chr2:54479772 A
A
 G
G
 1 a0001c0004t0004g0317
a0001c0004t0004g0317
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-48+23254A>G
c.-48+23254A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479772
chr2:54479863 CT
CT
 C
C
 92 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(89): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 92 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(89): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+23356delT
c.-48+23356delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54479863
chr2:54479875 C
C
 G
G
 1 a0001c0001t0002g0367
a0001c0001t0002g0367
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-48+23357C>G
c.-48+23357C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479875
chr2:54479883 C
C
 G
G
 69 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(66): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 69 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+23365C>G
c.-48+23365C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479883
chr2:54479976 A
A
 C
C
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+23458A>C
c.-48+23458A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54479976
chr2:54480084 C
C
 CT
CT
 5 a0001c0001t0002g0012
a0001c0001t0002g0301
a0001c0001t0004g0001
others(2): Show 
a0001c0001t0002g0012
a0001c0001t0002g0301
a0001c0001t0004g0001
a0001c0015t0002g0212
a0001c0015t0002g0220
 5 HG00408.hp2
NA19065.hp2
NA19079.hp2
others(2): Show 
HG00408.hp2
NA19065.hp2
NA19079.hp2
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.-48+23570dupT
c.-48+23570dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54480084
chr2:54480109 A
A
 C
C
 26 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
others(23): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0008c0030t0030g0174
 26 HG01346.hp2
HG01884.hp1
HG02109.hp1
others(23): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+23591A>C
c.-48+23591A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480109
chr2:54480310 T
T
 C
C
 1 a0001c0002t0001g0335
a0001c0002t0001g0335
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.-48+23792T>C
c.-48+23792T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480310
chr2:54480378 G
G
 A
A
 4 a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
a0001c0001t0007g0347
 4 HG02027.hp2
NA18990.hp1
NA18994.hp1
others(1): Show 
HG02027.hp2
NA18990.hp1
NA18994.hp1
NA19074.hp1
 intron_variant MODIFIER c.-48+23860G>A
c.-48+23860G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480378
chr2:54480382 C
C
 G
G
 1 a0001c0004t0007g0173
a0001c0004t0007g0173
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.-48+23864C>G
c.-48+23864C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480382
chr2:54480425 C
C
 T
T
 68 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(65): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 68 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(65): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+23907C>T
c.-48+23907C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480425
chr2:54480428 T
T
 A
A
 1 a0001c0003t0003g0139
a0001c0003t0003g0139
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+23910T>A
c.-48+23910T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480428
chr2:54480553 G
G
 A
A
 69 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(66): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 69 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+24035G>A
c.-48+24035G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480553
chr2:54480586 A
A
 G
G
 48 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(45): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 48 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(45): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+24068A>G
c.-48+24068A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480586
chr2:54480837 T
T
 G
G
 3 a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
 3 HG03490.hp2
HG03492.hp1
HG03831.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp1
 intron_variant MODIFIER c.-48+24319T>G
c.-48+24319T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54480837
chr2:54481028 C
C
 T
T
 1 a0001c0001t0049g0076
a0001c0001t0049g0076
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.-48+24510C>T
c.-48+24510C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481028
chr2:54481029 C
C
 A
A
 1 a0001c0003t0009g0227
a0001c0003t0009g0227
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.-48+24511C>A
c.-48+24511C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481029
chr2:54481062 A
A
 G
G
 90 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(87): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 90 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(87): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+24544A>G
c.-48+24544A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481062
chr2:54481271 C
C
 T
T
 86 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(83): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 86 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(83): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+24753C>T
c.-48+24753C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481271
chr2:54481363 T
T
 C
C
 9 a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0049g0076
others(6): Show 
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
 9 HG00738.hp1
HG01884.hp2
HG02257.hp2
others(6): Show 
HG00738.hp1
HG01884.hp2
HG02257.hp2
HG02280.hp2
HG03225.hp1
NA19030.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.-48+24845T>C
c.-48+24845T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481363
chr2:54481391 A
A
 AGT
AGT
 10 a0001c0001t0001g0087
a0001c0001t0002g0094
a0001c0002t0001g0028
others(7): Show 
a0001c0001t0001g0087
a0001c0001t0002g0094
a0001c0002t0001g0028
a0001c0002t0001g0082
a0001c0002t0001g0186
a0001c0007t0001g0302
a0001c0009t0007g0336
a0001c0010t0017g0150
a0001c0010t0017g0162
a0005c0028t0001g0006
 10 HG01256.hp2
HG01975.hp1
HG01978.hp1
others(7): Show 
HG01256.hp2
HG01975.hp1
HG01978.hp1
HG02080.hp2
HG02293.hp1
NA18962.hp1
NA19054.hp1
NA19054.hp2
NA19082.hp1
NA19085.hp1
 intron_variant MODIFIER c.-48+24922_-48+2492
others(6): Show 
c.-48+24922_-48+24923dupGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 A
A
 AGTGT
AGTGT
 5 a0001c0001t0002g0079
a0001c0002t0001g0121
a0001c0010t0017g0198
others(2): Show 
a0001c0001t0002g0079
a0001c0002t0001g0121
a0001c0010t0017g0198
a0001c0019t0012g0246
a0001c0020t0002g0034
 5 HG00735.hp2
HG02040.hp2
HG02622.hp2
others(2): Show 
HG00735.hp2
HG02040.hp2
HG02622.hp2
NA18968.hp1
NA18989.hp2
 intron_variant MODIFIER c.-48+24920_-48+2492
others(8): Show 
c.-48+24920_-48+24923dupGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 A
A
 AGTGTGT
AGTGTGT
 3 a0001c0001t0005g0221
a0001c0007t0001g0222
a0001c0019t0012g0252
a0001c0001t0005g0221
a0001c0007t0001g0222
a0001c0019t0012g0252
 3 HG03540.hp1
HG04204.hp2
NA19056.hp1
HG03540.hp1
HG04204.hp2
NA19056.hp1
 intron_variant MODIFIER c.-48+24918_-48+2492
others(10): Show 
c.-48+24918_-48+24923dupGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 A
A
 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 1 a0001c0002t0001g0287
a0001c0002t0001g0287
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.-48+24914_-48+2492
others(14): Show 
c.-48+24914_-48+24923dupGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 A
A
 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 1 a0001c0007t0001g0192
a0001c0007t0001g0192
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.-48+24912_-48+2492
others(16): Show 
c.-48+24912_-48+24923dupGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGT
AGT
 A
A
 92 a0001c0001t0002g0007
a0001c0001t0002g0015
a0001c0001t0002g0017
others(89): Show 
a0001c0001t0002g0007
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0035
a0001c0001t0002g0090
a0001c0001t0002g0095
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0208
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0219
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0316
a0001c0001t0002g0350
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0291
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0354
a0001c0001t0007g0347
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0164
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0204
a0001c0002t0001g0273
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0333
a0001c0002t0001g0337
a0001c0002t0006g0089
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0003t0003g0292
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0005t0003g0047
a0001c0007t0001g0311
a0001c0009t0007g0272
a0001c0009t0007g0286
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0099
a0001c0017t0002g0226
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0200
a0003c0031t0004g0063
 92 HG00099.hp2
HG00140.hp1
HG00438.hp2
others(89): Show 
HG00099.hp2
HG00140.hp1
HG00438.hp2
HG00609.hp1
HG00639.hp1
HG00741.hp1
HG01106.hp1
HG01123.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02071.hp1
HG02071.hp2
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02602.hp1
HG02622.hp1
HG02717.hp1
HG03225.hp1
HG03492.hp2
HG03831.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19010.hp1
NA19012.hp1
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp1
NA19076.hp1
NA19079.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+24922_-48+2492
others(6): Show 
c.-48+24922_-48+24923delGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGT
AGTGT
 A
A
 30 a0001c0001t0002g0033
a0001c0001t0002g0084
a0001c0001t0002g0085
others(27): Show 
a0001c0001t0002g0033
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0207
a0001c0001t0002g0217
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0004g0091
a0001c0001t0005g0106
a0001c0001t0005g0309
a0001c0001t0005g0322
a0001c0001t0005g0344
a0001c0001t0049g0076
a0001c0002t0001g0077
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0133
a0001c0002t0001g0335
a0001c0002t0005g0122
a0001c0002t0006g0328
a0001c0005t0021g0052
a0001c0007t0001g0119
a0001c0010t0002g0199
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0021t0001g0197
a0001c0023t0005g0283
a0008c0030t0030g0174
 30 HG00423.hp2
HG00738.hp1
HG01071.hp1
others(27): Show 
HG00423.hp2
HG00738.hp1
HG01071.hp1
HG01515.hp1
HG01517.hp1
HG02083.hp2
HG02273.hp1
HG02300.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG03017.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
NA18944.hp1
NA18946.hp2
NA18950.hp2
NA18956.hp2
NA18963.hp2
NA18968.hp2
NA18970.hp1
NA18978.hp1
NA18986.hp2
NA19000.hp1
NA19058.hp1
NA19084.hp1
NA19085.hp2
NA19091.hp1
 intron_variant MODIFIER c.-48+24920_-48+2492
others(8): Show 
c.-48+24920_-48+24923delGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGT
AGTGTGT
 A
A
 15 a0001c0001t0002g0224
a0001c0001t0018g0180
a0001c0001t0018g0303
others(12): Show 
a0001c0001t0002g0224
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0002t0001g0312
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0003t0003g0304
a0001c0004t0004g0193
a0001c0004t0010g0175
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 15 HG00280.hp2
HG00323.hp2
HG00558.hp1
others(12): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG01884.hp2
HG02055.hp2
HG02486.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG03130.hp2
HG03540.hp2
HG03927.hp1
NA18945.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+24918_-48+2492
others(10): Show 
c.-48+24918_-48+24923delGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(1): Show 
AGTGTGTGT
 A
A
 29 a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0014g0097
others(26): Show 
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0014g0097
a0001c0001t0019g0183
a0001c0001t0041g0247
a0001c0002t0001g0080
a0001c0003t0003g0261
a0001c0004t0004g0131
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0318
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0056
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0002c0006t0003g0184
 29 HG00323.hp1
HG01071.hp2
HG01081.hp2
others(26): Show 
HG00323.hp1
HG01071.hp2
HG01081.hp2
HG01175.hp2
HG01261.hp1
HG02083.hp1
HG02145.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03688.hp2
NA18957.hp1
NA18974.hp1
NA18993.hp1
NA19000.hp2
NA19043.hp1
NA19084.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.-48+24916_-48+2492
others(12): Show 
c.-48+24916_-48+24923delGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 A
A
 20 a0001c0001t0004g0070
a0001c0001t0014g0104
a0001c0001t0014g0105
others(17): Show 
a0001c0001t0004g0070
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0005t0025g0240
a0001c0008t0005g0306
a0002c0006t0003g0185
a0002c0006t0003g0188
 20 HG01192.hp1
HG01257.hp2
HG01258.hp1
others(17): Show 
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02080.hp1
HG02602.hp2
HG02683.hp2
HG02738.hp2
HG03195.hp1
HG03516.hp2
HG03669.hp2
HG04184.hp1
NA18955.hp2
NA19005.hp1
NA19083.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+24914_-48+2492
others(14): Show 
c.-48+24914_-48+24923delGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 A
A
 23 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(20): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0033t0007g0248
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0004c0032t0004g0329
 23 HG01109.hp2
HG01167.hp2
HG01255.hp2
others(20): Show 
HG01109.hp2
HG01167.hp2
HG01255.hp2
HG01981.hp1
HG02258.hp1
HG02451.hp2
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03471.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp1
NA18957.hp2
NA18989.hp1
NA18994.hp2
NA19005.hp2
NA19090.hp2
NA19240.hp2
 intron_variant MODIFIER c.-48+24912_-48+2492
others(16): Show 
c.-48+24912_-48+24923delGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(7): Show 
AGTGTGTGTGTGTGT
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+24910_-48+2492
others(18): Show 
c.-48+24910_-48+24923delGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(9): Show 
AGTGTGTGTGTGTGTGT
 A
A
 4 a0001c0003t0003g0139
a0001c0003t0027g0053
a0001c0003t0027g0054
others(1): Show 
a0001c0003t0003g0139
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0013t0015g0263
 4 HG03130.hp1
NA18906.hp2
NA19240.hp1
others(1): Show 
HG03130.hp1
NA18906.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+24908_-48+2492
others(20): Show 
c.-48+24908_-48+24923delGTGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(11): Show 
AGTGTGTGTGTGTGTGTGT
 A
A
 50 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(47): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 50 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(47): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.-48+24906_-48+2492
others(22): Show 
c.-48+24906_-48+24923delGTGTGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(15): Show 
AGTGTGTGTGTGTGTGTGTGTGT
 A
A
 2 a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0072
a0001c0004t0004g0096
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.-48+24902_-48+2492
others(26): Show 
c.-48+24902_-48+24923delGTGTGTGTGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(17): Show 
AGTGTGTGTGTGTGTGTGTGTGTGT
 A
A
 26 a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0002t0001g0147
others(23): Show 
a0001c0001t0001g0156
a0001c0001t0002g0367
a0001c0002t0001g0147
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0004t0004g0170
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0245
a0001c0008t0005g0260
 26 HG00738.hp2
HG00741.hp2
HG01123.hp1
others(23): Show 
HG00738.hp2
HG00741.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03669.hp1
 intron_variant MODIFIER c.-48+24900_-48+2492
others(28): Show 
c.-48+24900_-48+24923delGTGTGTGTGTGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481391 AGTGTGTG
others(25): Show 
AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
 A
A
 1 a0001c0008t0005g0244
a0001c0008t0005g0244
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-48+24892_-48+2492
others(36): Show 
c.-48+24892_-48+24923delGTGTGTGTGTGTGTGTGTGTGTGTGT
GTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481391
chr2:54481395 T
T
 A
A
 1 a0001c0008t0026g0364
a0001c0008t0026g0364
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.-48+24877T>A
c.-48+24877T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481395
chr2:54481397 T
T
 A
A
 2 a0001c0001t0019g0031
a0001c0012t0016g0026
a0001c0001t0019g0031
a0001c0012t0016g0026
 2 HG03225.hp1
NA20300.hp1
HG03225.hp1
NA20300.hp1
 intron_variant MODIFIER c.-48+24879T>A
c.-48+24879T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481397
chr2:54481399 T
T
 A
A
 1 a0001c0001t0049g0076
a0001c0001t0049g0076
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.-48+24881T>A
c.-48+24881T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481399
chr2:54481401 T
T
 A
A
 2 a0001c0003t0003g0304
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0135
 2 HG01884.hp2
NA19030.hp1
HG01884.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+24883T>A
c.-48+24883T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481401
chr2:54481440 G
G
 T
T
 93 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(90): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 93 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(90): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+24922G>T
c.-48+24922G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481440
chr2:54481446 TTTTG
TTTTG
 T
T
 5 a0001c0001t0002g0349
a0001c0004t0002g0161
a0001c0004t0004g0201
others(2): Show 
a0001c0001t0002g0349
a0001c0004t0002g0161
a0001c0004t0004g0201
a0001c0004t0004g0205
a0001c0005t0025g0240
 5 HG01192.hp1
HG03195.hp1
HG03516.hp2
others(2): Show 
HG01192.hp1
HG03195.hp1
HG03516.hp2
NA18940.hp2
NA19058.hp1
 intron_variant MODIFIER c.-48+24948_-48+2495
others(8): Show 
c.-48+24948_-48+24951delGTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54481446
chr2:54481537 T
T
 C
C
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+25019T>C
c.-48+25019T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481537
chr2:54481760 G
G
 A
A
 6 a0001c0001t0049g0076
a0001c0003t0003g0304
a0001c0008t0026g0364
others(3): Show 
a0001c0001t0049g0076
a0001c0003t0003g0304
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
 6 HG00738.hp1
HG01884.hp2
HG02257.hp2
others(3): Show 
HG00738.hp1
HG01884.hp2
HG02257.hp2
HG03225.hp1
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.-48+25242G>A
c.-48+25242G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481760
chr2:54481791 G
G
 C
C
 70 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(67): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 70 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(67): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+25273G>C
c.-48+25273G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481791
chr2:54481885 C
C
 T
T
 12 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
others(9): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 12 HG01346.hp2
HG01884.hp1
HG02109.hp1
others(9): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+25367C>T
c.-48+25367C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481885
chr2:54481924 G
G
 C
C
 242 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(239): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 242 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(239): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+25406G>C
c.-48+25406G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481924
chr2:54481985 A
A
 T
T
 1 a0001c0005t0008g0176
a0001c0005t0008g0176
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-48+25467A>T
c.-48+25467A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54481985
chr2:54482357 G
G
 GA
GA
 91 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(88): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0019g0031
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 91 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(88): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+25852dupA
c.-48+25852dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54482357
chr2:54482357 GA
GA
 G
G
 121 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(118): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
 121 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(118): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+25852delA
c.-48+25852delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54482357
chr2:54482369 A
A
 C
C
 2 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0036
a0001c0003t0003g0037
 2 HG02109.hp1
HG03098.hp2
HG02109.hp1
HG03098.hp2
 intron_variant MODIFIER c.-48+25851A>C
c.-48+25851A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54482369
chr2:54482533 C
C
 T
T
 1 a0001c0004t0007g0055
a0001c0004t0007g0055
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.-48+26015C>T
c.-48+26015C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54482533
chr2:54482535 C
C
 T
T
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-48+26017C>T
c.-48+26017C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54482535
chr2:54482546 C
C
 T
T
 91 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(88): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0019g0031
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 91 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(88): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+26028C>T
c.-48+26028C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54482546
chr2:54482601 T
T
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
 3 HG03654.hp1
HG04204.hp1
HG04204.hp2
HG03654.hp1
HG04204.hp1
HG04204.hp2
 intron_variant MODIFIER c.-48+26083T>C
c.-48+26083T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54482601
chr2:54482766 G
G
 A
A
 3 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 3 HG02145.hp2
HG02615.hp1
HG03139.hp1
HG02145.hp2
HG02615.hp1
HG03139.hp1
 intron_variant MODIFIER c.-48+26248G>A
c.-48+26248G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54482766
chr2:54483004 G
G
 T
T
 3 a0001c0003t0003g0320
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0320
a0001c0003t0003g0357
a0001c0003t0003g0360
 3 HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01109.hp1
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.-48+26486G>T
c.-48+26486G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483004
chr2:54483044 G
G
 A
A
 68 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(65): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 68 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(65): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+26526G>A
c.-48+26526G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483044
chr2:54483107 C
C
 T
T
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-48+26589C>T
c.-48+26589C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483107
chr2:54483224 G
G
 A
A
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.-48+26706G>A
c.-48+26706G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483224
chr2:54483267 T
T
 A
A
 2 a0001c0003t0003g0251
a0001c0003t0003g0366
a0001c0003t0003g0251
a0001c0003t0003g0366
 2 HG02976.hp1
HG03041.hp1
HG02976.hp1
HG03041.hp1
 intron_variant MODIFIER c.-48+26749T>A
c.-48+26749T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483267
chr2:54483303 G
G
 C
C
 1 a0001c0004t0010g0109
a0001c0004t0010g0109
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.-48+26785G>C
c.-48+26785G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483303
chr2:54483383 G
G
 C
C
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+26865G>C
c.-48+26865G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483383
chr2:54483523 C
C
 T
T
 69 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(66): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 69 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+27005C>T
c.-48+27005C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483523
chr2:54483528 T
T
 G
G
 2 a0001c0001t0002g0367
a0001c0005t0008g0368
a0001c0001t0002g0367
a0001c0005t0008g0368
 2 HG02109.hp2
HG02922.hp1
HG02109.hp2
HG02922.hp1
 intron_variant MODIFIER c.-48+27010T>G
c.-48+27010T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483528
chr2:54483536 G
G
 C
C
 2 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0004
a0001c0005t0003g0005
 2 HG03516.hp1
NA21309.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+27018G>C
c.-48+27018G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483536
chr2:54483557 G
G
 A
A
 368 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(365): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0353
a0001c0001t0005g0354
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 368 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(365): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+27039G>A
c.-48+27039G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483557
chr2:54483572 C
C
 T
T
 1 a0001c0020t0002g0034
a0001c0020t0002g0034
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.-48+27054C>T
c.-48+27054C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483572
chr2:54483661 GGGCACAG
others(3): Show 
GGGCACAGGAA
 G
G
 7 a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
others(4): Show 
a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0224
a0001c0001t0002g0349
a0001c0004t0004g0218
 7 HG00558.hp1
NA18946.hp1
NA18971.hp2
others(4): Show 
HG00558.hp1
NA18946.hp1
NA18971.hp2
NA18978.hp1
NA19055.hp1
NA19058.hp1
NA19076.hp1
 intron_variant MODIFIER c.-48+27145_-48+2715
others(14): Show 
c.-48+27145_-48+27154delGCACAGGAAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54483661
chr2:54483666 C
C
 T
T
 2 a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0098
a0001c0004t0004g0132
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.-48+27148C>T
c.-48+27148C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483666
chr2:54483808 C
C
 T
T
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-48+27290C>T
c.-48+27290C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483808
chr2:54483862 G
G
 A
A
 1 a0001c0002t0006g0114
a0001c0002t0006g0114
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.-48+27344G>A
c.-48+27344G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483862
chr2:54483947 C
C
 T
T
 2 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0008g0041
a0001c0005t0021g0040
 2 HG02486.hp2
HG02818.hp2
HG02486.hp2
HG02818.hp2
 intron_variant MODIFIER c.-48+27429C>T
c.-48+27429C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483947
chr2:54483953 G
G
 A
A
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-48+27435G>A
c.-48+27435G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54483953
chr2:54484000 G
G
 A
A
 1 a0001c0002t0001g0146
a0001c0002t0001g0146
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.-48+27482G>A
c.-48+27482G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484000
chr2:54484092 T
T
 C
C
 245 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(242): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 245 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(242): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+27574T>C
c.-48+27574T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484092
chr2:54484122 G
G
 A
A
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.-48+27604G>A
c.-48+27604G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484122
chr2:54484178 C
C
 A
A
 3 a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
 3 HG02647.hp2
HG02922.hp2
NA20129.hp1
HG02647.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.-48+27660C>A
c.-48+27660C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484178
chr2:54484269 G
G
 A
A
 3 a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
 3 NA18977.hp2
NA18983.hp2
NA19010.hp1
NA18977.hp2
NA18983.hp2
NA19010.hp1
 intron_variant MODIFIER c.-48+27751G>A
c.-48+27751G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484269
chr2:54484331 G
G
 C
C
 4 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(1): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
 4 HG02738.hp2
HG03017.hp1
HG03669.hp2
others(1): Show 
HG02738.hp2
HG03017.hp1
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+27813G>C
c.-48+27813G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484331
chr2:54484388 A
A
 G
G
 46 a0001c0001t0002g0017
a0001c0001t0002g0094
a0001c0001t0004g0070
others(43): Show 
a0001c0001t0002g0017
a0001c0001t0002g0094
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0041g0247
a0001c0003t0003g0261
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0008g0056
a0001c0033t0007g0248
a0002c0006t0003g0141
a0004c0032t0004g0329
 46 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(43): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03490.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18945.hp1
NA18952.hp1
NA18979.hp1
NA18985.hp1
NA19001.hp2
NA19005.hp2
NA19054.hp1
NA19062.hp1
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.-48+27870A>G
c.-48+27870A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484388
chr2:54484406 G
G
 A
A
 243 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(240): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 243 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(240): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+27888G>A
c.-48+27888G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484406
chr2:54484431 A
A
 G
G
 97 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(94): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0019g0031
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 97 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(94): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+27913A>G
c.-48+27913A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484431
chr2:54484466 C
C
 T
T
 7 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(4): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0002t0001g0083
a0001c0002t0001g0124
a0001c0010t0002g0140
 7 NA18941.hp1
NA18944.hp1
NA18950.hp2
others(4): Show 
NA18941.hp1
NA18944.hp1
NA18950.hp2
NA18963.hp2
NA18964.hp1
NA18970.hp2
NA18986.hp2
 intron_variant MODIFIER c.-48+27948C>T
c.-48+27948C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484466
chr2:54484502 A
A
 T
T
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
a0001c0001t0005g0221
a0001c0016t0005g0064
a0002c0006t0003g0200
 3 HG03654.hp1
HG04204.hp1
HG04204.hp2
HG03654.hp1
HG04204.hp1
HG04204.hp2
 intron_variant MODIFIER c.-48+27984A>T
c.-48+27984A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484502
chr2:54484576 A
A
 G
G
 1 a0001c0012t0016g0135
a0001c0012t0016g0135
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-48+28058A>G
c.-48+28058A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484576
chr2:54484716 A
A
 G
G
 1 a0001c0001t0022g0164
a0001c0001t0022g0164
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.-48+28198A>G
c.-48+28198A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484716
chr2:54484755 C
C
 T
T
 1 a0001c0001t0005g0346
a0001c0001t0005g0346
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.-48+28237C>T
c.-48+28237C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484755
chr2:54484767 G
G
 T
T
 1 a0001c0014t0001g0029
a0001c0014t0001g0029
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.-48+28249G>T
c.-48+28249G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484767
chr2:54484770 T
T
 G
G
 1 a0001c0014t0001g0029
a0001c0014t0001g0029
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.-48+28252T>G
c.-48+28252T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484770
chr2:54484770 T
T
 TGTG
TGTG
 290 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(287): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 290 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(287): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+28253_-48+2825
others(7): Show 
c.-48+28253_-48+28255dupGTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54484770
chr2:54484775 C
C
 T
T
 5 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
others(2): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0008t0005g0306
 5 HG02055.hp1
HG02970.hp2
HG02976.hp1
others(2): Show 
HG02055.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
 intron_variant MODIFIER c.-48+28257C>T
c.-48+28257C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54484775
chr2:54485098 T
T
 C
C
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.-48+28580T>C
c.-48+28580T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485098
chr2:54485152 C
C
 CTCTCCCT
others(15): Show 
CTCTCCCTCTCCCTCTCCCTCCG
 68 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(65): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 68 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(65): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+28646_-48+2866
others(26): Show 
c.-48+28646_-48+28667dupCTCTCCCTCCGTCTCCCTCTCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54485152
chr2:54485152 C
C
 CTCTCCCT
others(37): Show 
CTCTCCCTCTCCCTCTCCCTCCGTCTCCCTCTCCCTCTCCCTCCG
 1 a0001c0002t0005g0122
a0001c0002t0005g0122
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.-48+28667_-48+2866
others(48): Show 
c.-48+28667_-48+28668insCTCTCCCTCCGTCTCCCTCTCCCTCT
CCCTCCGTCTCCCTCTCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54485152
chr2:54485158 C
C
 T
T
 33 a0001c0001t0002g0017
a0001c0001t0002g0094
a0001c0001t0004g0070
others(30): Show 
a0001c0001t0002g0017
a0001c0001t0002g0094
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0002c0006t0003g0141
a0004c0032t0004g0329
 33 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(30): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02080.hp1
HG02602.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG03490.hp1
HG04184.hp1
NA18945.hp1
NA18952.hp1
NA18979.hp1
NA18985.hp1
NA19001.hp2
NA19005.hp2
NA19054.hp1
NA19062.hp1
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.-48+28640C>T
c.-48+28640C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485158
chr2:54485220 A
A
 G
G
 1 a0001c0002t0006g0271
a0001c0002t0006g0271
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.-48+28702A>G
c.-48+28702A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485220
chr2:54485244 G
G
 A
A
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+28726G>A
c.-48+28726G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485244
chr2:54485347 C
C
 T
T
 91 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(88): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 91 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(88): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19030.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20129.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+28829C>T
c.-48+28829C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485347
chr2:54485382 A
A
 T
T
 12 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
others(9): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 12 HG01346.hp2
HG01884.hp1
HG02109.hp1
others(9): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+28864A>T
c.-48+28864A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485382
chr2:54485435 T
T
 C
C
 245 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(242): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 245 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(242): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+28917T>C
c.-48+28917T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485435
chr2:54485437 C
C
 A
A
 1 a0001c0012t0016g0135
a0001c0012t0016g0135
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-48+28919C>A
c.-48+28919C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485437
chr2:54485441 C
C
 A
A
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-48+28923C>A
c.-48+28923C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485441
chr2:54485526 G
G
 A
A
 1 a0001c0001t0005g0322
a0001c0001t0005g0322
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.-48+29008G>A
c.-48+29008G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485526
chr2:54485557 G
G
 C
C
 3 a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
 3 HG02647.hp2
HG02922.hp2
NA20129.hp1
HG02647.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.-48+29039G>C
c.-48+29039G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485557
chr2:54485603 C
C
 A
A
 1 a0001c0001t0029g0100
a0001c0001t0029g0100
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.-48+29085C>A
c.-48+29085C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485603
chr2:54485604 G
G
 A
A
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
 9 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+29086G>A
c.-48+29086G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485604
chr2:54485724 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.-48+29206G>A
c.-48+29206G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485724
chr2:54485732 A
A
 T
T
 5 a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0008t0026g0364
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
 5 HG00738.hp1
HG02257.hp2
HG03225.hp1
others(2): Show 
HG00738.hp1
HG02257.hp2
HG03225.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+29214A>T
c.-48+29214A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485732
chr2:54485774 C
C
 G
G
 1 a0001c0005t0031g0187
a0001c0005t0031g0187
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-48+29256C>G
c.-48+29256C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485774
chr2:54485799 C
C
 T
T
 42 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(39): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 42 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(39): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp1
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+29281C>T
c.-48+29281C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485799
chr2:54485822 G
G
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+29304G>A
c.-48+29304G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485822
chr2:54485875 C
C
 T
T
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.-48+29357C>T
c.-48+29357C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485875
chr2:54485882 G
G
 A
A
 1 a0001c0005t0011g0051
a0001c0005t0011g0051
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-48+29364G>A
c.-48+29364G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485882
chr2:54485987 C
C
 T
T
 5 a0001c0001t0002g0225
a0001c0010t0002g0199
a0001c0010t0017g0150
others(2): Show 
a0001c0001t0002g0225
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
 5 HG00735.hp2
HG01978.hp1
HG02155.hp2
others(2): Show 
HG00735.hp2
HG01978.hp1
HG02155.hp2
HG02293.hp1
NA18970.hp1
 intron_variant MODIFIER c.-48+29469C>T
c.-48+29469C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485987
chr2:54485998 C
C
 T
T
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.-48+29480C>T
c.-48+29480C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485998
chr2:54485999 G
G
 A
A
 2 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0008g0041
a0001c0005t0021g0040
 2 HG02486.hp2
HG02818.hp2
HG02486.hp2
HG02818.hp2
 intron_variant MODIFIER c.-48+29481G>A
c.-48+29481G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54485999
chr2:54486064 TGCCCGGC
others(42): Show 
TGCCCGGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCAC
 T
T
 2 a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0264
a0001c0004t0004g0265
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.-48+29559_-48+2960
others(53): Show 
c.-48+29559_-48+29607delACCCTGTCCGGGAGGGAGGTGGGGGG
GTCAGCCCCACGCCCGGCCAGCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54486064
chr2:54486068 C
C
 T
T
 3 a0001c0001t0019g0031
a0001c0008t0026g0364
a0001c0012t0016g0026
a0001c0001t0019g0031
a0001c0008t0026g0364
a0001c0012t0016g0026
 3 HG02257.hp2
HG03225.hp1
NA20300.hp1
HG02257.hp2
HG03225.hp1
NA20300.hp1
 intron_variant MODIFIER c.-48+29550C>T
c.-48+29550C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486068
chr2:54486103 G
G
 A
A
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-48+29585G>A
c.-48+29585G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486103
chr2:54486112 A
A
 G
G
 1 a0001c0008t0005g0260
a0001c0008t0005g0260
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.-48+29594A>G
c.-48+29594A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486112
chr2:54486125 C
C
 T
T
 1 a0001c0004t0010g0175
a0001c0004t0010g0175
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.-48+29607C>T
c.-48+29607C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486125
chr2:54486158 C
C
 T
T
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-48+29640C>T
c.-48+29640C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486158
chr2:54486163 GC
GC
 G
G
 85 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+29649delC
c.-48+29649delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54486163
chr2:54486167 C
C
 T
T
 2 a0001c0003t0003g0304
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0135
 2 HG01884.hp2
NA19030.hp1
HG01884.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+29649C>T
c.-48+29649C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486167
chr2:54486168 T
T
 A
A
 2 a0001c0003t0003g0304
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0135
 2 HG01884.hp2
NA19030.hp1
HG01884.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+29650T>A
c.-48+29650T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486168
chr2:54486169 G
G
 A
A
 242 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(239): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 242 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(239): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+29651G>A
c.-48+29651G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486169
chr2:54486170 C
C
 T
T
 2 a0001c0003t0003g0304
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0135
 2 HG01884.hp2
NA19030.hp1
HG01884.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+29652C>T
c.-48+29652C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486170
chr2:54486188 C
C
 T
T
 1 a0001c0001t0005g0354
a0001c0001t0005g0354
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.-48+29670C>T
c.-48+29670C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486188
chr2:54486194 C
C
 A
A
 2 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0004
a0001c0005t0003g0005
 2 HG03516.hp1
NA21309.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+29676C>A
c.-48+29676C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486194
chr2:54486196 G
G
 A
A
 86 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(83): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 86 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(83): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+29678G>A
c.-48+29678G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486196
chr2:54486206 C
C
 T
T
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-48+29688C>T
c.-48+29688C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486206
chr2:54486281 G
G
 C
C
 2 a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0046
a0001c0008t0005g0243
 2 HG02809.hp1
HG03471.hp2
HG02809.hp1
HG03471.hp2
 intron_variant MODIFIER c.-48+29763G>C
c.-48+29763G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486281
chr2:54486301 C
C
 T
T
 244 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(241): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 244 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(241): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+29783C>T
c.-48+29783C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486301
chr2:54486310 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+29792C>T
c.-48+29792C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486310
chr2:54486315 G
G
 A
A
 1 a0001c0025t0003g0352
a0001c0025t0003g0352
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.-48+29797G>A
c.-48+29797G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486315
chr2:54486321 C
C
 T
T
 2 a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0046
a0001c0008t0005g0243
 2 HG02809.hp1
HG03471.hp2
HG02809.hp1
HG03471.hp2
 intron_variant MODIFIER c.-48+29803C>T
c.-48+29803C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486321
chr2:54486401 C
C
 T
T
 7 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(4): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0021g0052
a0001c0005t0031g0187
 7 HG02647.hp1
HG02886.hp2
HG03471.hp1
others(4): Show 
HG02647.hp1
HG02886.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+29883C>T
c.-48+29883C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486401
chr2:54486422 C
C
 T
T
 5 a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0008t0026g0364
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
 5 HG00738.hp1
HG02257.hp2
HG03225.hp1
others(2): Show 
HG00738.hp1
HG02257.hp2
HG03225.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+29904C>T
c.-48+29904C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486422
chr2:54486459 C
C
 G
G
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-48+29941C>G
c.-48+29941C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486459
chr2:54486512 C
C
 T
T
 13 a0001c0001t0005g0309
a0001c0002t0001g0308
a0001c0002t0001g0310
others(10): Show 
a0001c0001t0005g0309
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
 13 NA18959.hp2
NA18963.hp1
NA18968.hp2
others(10): Show 
NA18959.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19076.hp2
 intron_variant MODIFIER c.-48+29994C>T
c.-48+29994C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486512
chr2:54486530 G
G
 C
C
 1 a0001c0001t0005g0345
a0001c0001t0005g0345
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.-48+30012G>C
c.-48+30012G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486530
chr2:54486591 A
A
 C
C
 2 a0001c0003t0003g0304
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0135
 2 HG01884.hp2
NA19030.hp1
HG01884.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+30073A>C
c.-48+30073A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486591
chr2:54486725 A
A
 T
T
 14 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(11): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0033g0172
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0176
a0007c0024t0009g0232
 14 HG02015.hp1
HG03453.hp1
NA18940.hp1
others(11): Show 
HG02015.hp1
HG03453.hp1
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA18990.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.-48+30207A>T
c.-48+30207A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486725
chr2:54486736 T
T
 TA
TA
 6 a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0005t0003g0047
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0005t0003g0047
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
 6 HG00738.hp1
HG02257.hp2
HG03225.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG03225.hp1
NA18522.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+30231dupA
c.-48+30231dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54486736
chr2:54486922 A
A
 G
G
 2 a0001c0005t0043g0039
a0008c0030t0030g0174
a0001c0005t0043g0039
a0008c0030t0030g0174
 2 HG02717.hp2
HG02886.hp1
HG02717.hp2
HG02886.hp1
 intron_variant MODIFIER c.-48+30404A>G
c.-48+30404A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486922
chr2:54486929 A
A
 G
G
 244 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(241): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 244 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(241): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+30411A>G
c.-48+30411A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486929
chr2:54486973 T
T
 G
G
 3 a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
 3 HG03579.hp2
NA19043.hp2
NA20300.hp2
HG03579.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+30455T>G
c.-48+30455T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486973
chr2:54486982 G
G
 A
A
 42 a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
others(39): Show 
a0001c0001t0002g0351
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 42 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(39): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp1
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+30464G>A
c.-48+30464G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486982
chr2:54486988 G
G
 A
A
 2 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0036
a0001c0003t0003g0037
 2 HG02109.hp1
HG03098.hp2
HG02109.hp1
HG03098.hp2
 intron_variant MODIFIER c.-48+30470G>A
c.-48+30470G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54486988
chr2:54487070 A
A
 G
G
 10 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(7): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0005t0031g0187
 10 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(7): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+30552A>G
c.-48+30552A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487070
chr2:54487170 C
C
 CT
CT
 76 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0033
others(73): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0085
a0001c0001t0002g0216
a0001c0001t0002g0225
a0001c0001t0004g0125
a0001c0001t0004g0142
a0001c0001t0005g0206
a0001c0001t0005g0309
a0001c0001t0005g0341
a0001c0001t0005g0354
a0001c0001t0007g0347
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0330
a0001c0002t0001g0359
a0001c0002t0006g0114
a0001c0002t0006g0159
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0009g0237
a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0107
a0001c0004t0004g0166
a0001c0004t0004g0318
a0001c0004t0007g0057
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0176
a0001c0005t0011g0051
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0034g0003
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0228
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0025t0003g0352
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0179
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
 76 HG00423.hp1
HG00423.hp2
HG00438.hp2
others(73): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp2
HG00735.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01978.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02602.hp1
HG02615.hp2
HG02647.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03579.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18962.hp1
NA18963.hp2
NA18970.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19005.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19086.hp1
NA19090.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+30672dupT
c.-48+30672dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487170
chr2:54487170 C
C
 CTT
CTT
 30 a0001c0001t0002g0017
a0001c0001t0005g0343
a0001c0001t0005g0346
others(27): Show 
a0001c0001t0002g0017
a0001c0001t0005g0343
a0001c0001t0005g0346
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0002c0006t0003g0178
a0002c0006t0003g0184
 30 HG01346.hp2
HG01884.hp1
HG02027.hp2
others(27): Show 
HG01346.hp2
HG01884.hp1
HG02027.hp2
HG02109.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02886.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA18957.hp2
NA18974.hp1
NA18985.hp1
NA18990.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+30671_-48+3067
others(6): Show 
c.-48+30671_-48+30672dupTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487170
chr2:54487170 C
C
 CTTT
CTTT
 6 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(3): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0005t0021g0040
a0001c0008t0005g0306
 6 HG01167.hp2
HG01255.hp2
HG02055.hp1
others(3): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02451.hp2
HG02818.hp2
HG06807.hp1
 intron_variant MODIFIER c.-48+30670_-48+3067
others(7): Show 
c.-48+30670_-48+30672dupTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487170
chr2:54487170 CT
CT
 C
C
 67 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0090
others(64): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0367
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0278
a0001c0002t0028g0294
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0029t0007g0290
a0010c0034t0001g0002
 67 HG00140.hp1
HG00323.hp2
HG00408.hp1
others(64): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02922.hp1
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18989.hp2
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19076.hp2
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+30672delT
c.-48+30672delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487170
chr2:54487200 T
T
 TCA
TCA
 69 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(66): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 69 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+30682_-48+3068
others(6): Show 
c.-48+30682_-48+30683insCA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487200
chr2:54487217 A
A
 G
G
 1 a0001c0001t0002g0090
a0001c0001t0002g0090
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.-48+30699A>G
c.-48+30699A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487217
chr2:54487225 T
T
 A
A
 53 a0001c0001t0002g0351
a0001c0001t0005g0309
a0001c0002t0001g0231
others(50): Show 
a0001c0001t0002g0351
a0001c0001t0005g0309
a0001c0002t0001g0231
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 53 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp1
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18959.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19076.hp2
NA19086.hp2
NA19088.hp2
NA20300.hp2
 intron_variant MODIFIER c.-48+30707T>A
c.-48+30707T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487225
chr2:54487360 C
C
 T
T
 1 a0001c0001t0002g0338
a0001c0001t0002g0338
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.-48+30842C>T
c.-48+30842C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487360
chr2:54487400 A
A
 C
C
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.-48+30882A>C
c.-48+30882A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487400
chr2:54487402 ATAC
ATAC
 A
A
 242 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(239): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 242 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(239): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+30892_-48+3089
others(7): Show 
c.-48+30892_-48+30894delACT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487402
chr2:54487416 C
C
 T
T
 69 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(66): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 69 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+30898C>T
c.-48+30898C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487416
chr2:54487458 G
G
 T
T
 1 a0001c0007t0013g0137
a0001c0007t0013g0137
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-48+30940G>T
c.-48+30940G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487458
chr2:54487501 A
A
 G
G
 4 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(1): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0330
 4 NA18983.hp1
NA18993.hp2
NA19074.hp2
others(1): Show 
NA18983.hp1
NA18993.hp2
NA19074.hp2
NA19082.hp1
 intron_variant MODIFIER c.-48+30983A>G
c.-48+30983A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487501
chr2:54487561 C
C
 G
G
 5 a0001c0005t0003g0047
a0001c0007t0013g0137
a0001c0018t0007g0112
others(2): Show 
a0001c0005t0003g0047
a0001c0007t0013g0137
a0001c0018t0007g0112
a0001c0018t0042g0027
a0008c0030t0030g0174
 5 HG02559.hp2
HG02717.hp2
HG02976.hp2
others(2): Show 
HG02559.hp2
HG02717.hp2
HG02976.hp2
HG03195.hp2
NA18522.hp2
 intron_variant MODIFIER c.-48+31043C>G
c.-48+31043C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487561
chr2:54487587 A
A
 T
T
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-48+31069A>T
c.-48+31069A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487587
chr2:54487591 T
T
 C
C
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.-48+31073T>C
c.-48+31073T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487591
chr2:54487717 G
G
 A
A
 1 a0001c0013t0015g0258
a0001c0013t0015g0258
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+31199G>A
c.-48+31199G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487717
chr2:54487745 C
C
 G
G
 2 a0001c0005t0008g0176
a0001c0008t0005g0260
a0001c0005t0008g0176
a0001c0008t0005g0260
 2 HG02451.hp1
HG03453.hp1
HG02451.hp1
HG03453.hp1
 intron_variant MODIFIER c.-48+31227C>G
c.-48+31227C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487745
chr2:54487754 A
A
 C
C
 1 a0001c0001t0002g0367
a0001c0001t0002g0367
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-48+31236A>C
c.-48+31236A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487754
chr2:54487832 C
C
 CTCTTTTT
others(12): Show 
CTCTTTTTTTTTTTTTTTTT
 6 a0001c0004t0004g0132
a0001c0004t0004g0205
a0001c0004t0004g0264
others(3): Show 
a0001c0004t0004g0132
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0267
a0001c0004t0007g0055
a0001c0004t0035g0042
 6 HG01192.hp1
HG01257.hp2
HG01952.hp2
others(3): Show 
HG01192.hp1
HG01257.hp2
HG01952.hp2
HG02897.hp1
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.-48+31315_-48+3131
others(23): Show 
c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTCTTTTT
others(13): Show 
CTCTTTTTTTTTTTTTTTTTT
 20 a0001c0001t0004g0091
a0001c0001t0004g0093
a0001c0001t0004g0130
others(17): Show 
a0001c0001t0004g0091
a0001c0001t0004g0093
a0001c0001t0004g0130
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0003t0003g0261
a0001c0004t0004g0069
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0317
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0010g0175
 20 HG00323.hp1
HG01081.hp2
HG01168.hp1
others(17): Show 
HG00323.hp1
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG02647.hp2
HG02895.hp1
HG02965.hp1
HG03490.hp1
HG03927.hp1
HG04184.hp1
NA18979.hp1
NA19001.hp2
NA19062.hp1
NA19066.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.-48+31315_-48+3131
others(24): Show 
c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTCTTTTT
others(14): Show 
CTCTTTTTTTTTTTTTTTTTTT
 11 a0001c0001t0002g0094
a0001c0001t0004g0092
a0001c0001t0004g0125
others(8): Show 
a0001c0001t0002g0094
a0001c0001t0004g0092
a0001c0001t0004g0125
a0001c0001t0004g0142
a0001c0001t0004g0145
a0001c0001t0041g0247
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0348
a0001c0033t0007g0248
a0004c0032t0004g0329
 11 HG00438.hp2
HG01071.hp2
HG01261.hp1
others(8): Show 
HG00438.hp2
HG01071.hp2
HG01261.hp1
HG01981.hp1
HG03688.hp2
NA18952.hp1
NA19005.hp2
NA19054.hp1
NA19067.hp2
NA19079.hp1
NA20905.hp1
 intron_variant MODIFIER c.-48+31315_-48+3131
others(25): Show 
c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTCTTTTT
others(15): Show 
CTCTTTTTTTTTTTTTTTTTTTT
 4 a0001c0001t0004g0070
a0001c0001t0004g0129
a0001c0004t0010g0315
others(1): Show 
a0001c0001t0004g0070
a0001c0001t0004g0129
a0001c0004t0010g0315
a0001c0005t0008g0056
 4 HG00609.hp1
HG02145.hp1
HG02572.hp2
others(1): Show 
HG00609.hp1
HG02145.hp1
HG02572.hp2
HG02602.hp2
 intron_variant MODIFIER c.-48+31315_-48+3131
others(26): Show 
c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 48 a0001c0001t0001g0087
a0001c0001t0002g0085
a0001c0001t0002g0090
others(45): Show 
a0001c0001t0001g0087
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0326
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0284
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0010c0034t0001g0002
 48 HG00408.hp1
HG00558.hp2
HG00735.hp1
others(45): Show 
HG00408.hp1
HG00558.hp2
HG00735.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01517.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02155.hp1
HG02300.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03704.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18957.hp1
NA18963.hp2
NA18970.hp2
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18993.hp1
NA19001.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+31320_-48+3132
others(14): Show 
c.-48+31320_-48+31329dupTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 127 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(124): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0123
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0019g0031
a0001c0001t0022g0118
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0115
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0160
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0008g0176
a0001c0005t0011g0051
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0034g0003
a0001c0007t0001g0119
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0009c0022t0051g0078
 127 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(124): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01433.hp1
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02080.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02602.hp1
HG02698.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+31319_-48+3132
others(15): Show 
c.-48+31319_-48+31329dupTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 45 a0001c0001t0002g0367
a0001c0001t0005g0309
a0001c0001t0005g0353
others(42): Show 
a0001c0001t0002g0367
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0282
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0003t0003g0036
a0001c0003t0003g0113
a0001c0003t0003g0256
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0360
a0001c0003t0009g0237
a0001c0003t0027g0053
a0001c0003t0032g0321
a0001c0004t0002g0161
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0007t0013g0137
a0001c0008t0005g0243
a0001c0008t0005g0306
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0012t0016g0135
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0002c0006t0003g0178
a0002c0006t0003g0185
a0008c0030t0030g0174
 45 HG01109.hp1
HG01261.hp2
HG01346.hp2
others(42): Show 
HG01109.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02717.hp2
HG02738.hp1
HG02886.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18955.hp2
NA18957.hp2
NA19000.hp1
NA19030.hp1
NA19067.hp1
NA20905.hp2
 intron_variant MODIFIER c.-48+31318_-48+3132
others(16): Show 
c.-48+31318_-48+31329dupTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 10 a0001c0001t0014g0105
a0001c0002t0006g0149
a0001c0003t0003g0257
others(7): Show 
a0001c0001t0014g0105
a0001c0002t0006g0149
a0001c0003t0003g0257
a0001c0005t0008g0050
a0001c0005t0008g0368
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0043g0039
 10 HG02109.hp2
HG02257.hp1
HG02572.hp1
others(7): Show 
HG02109.hp2
HG02257.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+31317_-48+3132
others(17): Show 
c.-48+31317_-48+31329dupTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 3 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0037
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0037
 3 HG02280.hp2
HG03098.hp2
NA21309.hp1
HG02280.hp2
HG03098.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+31316_-48+3132
others(18): Show 
c.-48+31316_-48+31329dupTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 3 a0001c0001t0002g0020
a0001c0001t0005g0206
a0001c0001t0040g0300
a0001c0001t0002g0020
a0001c0001t0005g0206
a0001c0001t0040g0300
 3 HG01346.hp1
NA18959.hp1
NA19074.hp1
HG01346.hp1
NA18959.hp1
NA19074.hp1
 intron_variant MODIFIER c.-48+31329_-48+3133
others(22): Show 
c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 32 a0001c0001t0002g0021
a0001c0001t0002g0095
a0001c0001t0002g0163
others(29): Show 
a0001c0001t0002g0021
a0001c0001t0002g0095
a0001c0001t0002g0163
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0210
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0219
a0001c0001t0002g0225
a0001c0001t0002g0249
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0005g0136
a0001c0001t0005g0344
a0001c0001t0005g0346
a0001c0001t0007g0019
a0001c0001t0039g0058
a0001c0002t0001g0111
a0001c0002t0001g0133
a0001c0004t0004g0201
a0001c0004t0004g0218
a0001c0009t0007g0272
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0019t0012g0252
a0003c0031t0004g0063
 32 HG00099.hp2
HG01255.hp1
HG01433.hp2
others(29): Show 
HG00099.hp2
HG01255.hp1
HG01433.hp2
HG01515.hp1
HG01993.hp2
HG02027.hp2
HG02083.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp1
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG03540.hp1
HG03942.hp1
HG03942.hp2
NA18940.hp2
NA18946.hp1
NA18952.hp2
NA18955.hp1
NA18970.hp1
NA18971.hp2
NA18979.hp2
NA18982.hp2
NA19055.hp1
NA19058.hp1
NA19076.hp1
NA19084.hp1
NA19085.hp2
NA19091.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.-48+31329_-48+3133
others(23): Show 
c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(13): Show 
CTTTTTTTTTTTTTTTTTTTT
 28 a0001c0001t0002g0007
a0001c0001t0002g0018
a0001c0001t0002g0035
others(25): Show 
a0001c0001t0002g0007
a0001c0001t0002g0018
a0001c0001t0002g0035
a0001c0001t0002g0167
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0217
a0001c0001t0002g0224
a0001c0001t0002g0239
a0001c0001t0002g0350
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0345
a0001c0001t0007g0347
a0001c0001t0022g0164
a0001c0002t0001g0204
a0001c0002t0006g0089
a0001c0002t0029g0339
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0318
a0001c0005t0003g0005
a0001c0010t0017g0162
a0001c0010t0017g0198
a0002c0006t0003g0141
 28 HG00558.hp1
HG00639.hp2
HG00735.hp2
others(25): Show 
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00741.hp1
HG01175.hp2
HG01496.hp1
HG01978.hp1
HG02027.hp1
HG02273.hp1
HG02300.hp2
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18612.hp2
NA18945.hp1
NA18962.hp2
NA18978.hp1
NA18983.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18998.hp2
NA19010.hp1
NA19081.hp2
NA19082.hp2
NA19090.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+31329_-48+3133
others(24): Show 
c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(14): Show 
CTTTTTTTTTTTTTTTTTTTTT
 12 a0001c0001t0002g0012
a0001c0001t0002g0017
a0001c0001t0002g0033
others(9): Show 
a0001c0001t0002g0012
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0128
a0001c0001t0002g0214
a0001c0001t0004g0001
a0001c0001t0005g0341
a0001c0001t0020g0032
a0001c0005t0003g0004
a0001c0007t0001g0302
a0001c0017t0002g0226
a0001c0019t0012g0246
 12 HG00408.hp2
HG00423.hp2
HG01256.hp2
others(9): Show 
HG00408.hp2
HG00423.hp2
HG01256.hp2
HG01361.hp2
HG02071.hp2
HG02622.hp2
HG03516.hp1
HG04228.hp2
NA18956.hp1
NA18969.hp2
NA18985.hp1
NA19065.hp2
 intron_variant MODIFIER c.-48+31329_-48+3133
others(25): Show 
c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 4 a0001c0001t0002g0301
a0001c0001t0004g0213
a0001c0001t0005g0211
others(1): Show 
a0001c0001t0002g0301
a0001c0001t0004g0213
a0001c0001t0005g0211
a0001c0001t0020g0022
 4 NA18974.hp2
NA18977.hp2
NA19068.hp2
others(1): Show 
NA18974.hp2
NA18977.hp2
NA19068.hp2
NA19079.hp2
 intron_variant MODIFIER c.-48+31329_-48+3133
others(26): Show 
c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487832 C
C
 CTTTTTTT
others(17): Show 
CTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0020g0023
a0001c0001t0020g0023
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.-48+31329_-48+3133
others(28): Show 
c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54487832
chr2:54487860 T
T
 C
C
 4 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(1): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0135
 4 HG01884.hp2
HG02280.hp2
NA19030.hp1
others(1): Show 
HG01884.hp2
HG02280.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-48+31342T>C
c.-48+31342T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487860
chr2:54487915 C
C
 T
T
 55 a0001c0001t0002g0351
a0001c0001t0005g0309
a0001c0002t0001g0231
others(52): Show 
a0001c0001t0002g0351
a0001c0001t0005g0309
a0001c0002t0001g0231
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp1
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18959.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19076.hp2
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-48+31397C>T
c.-48+31397C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487915
chr2:54487917 C
C
 G
G
 1 a0001c0009t0007g0272
a0001c0009t0007g0272
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.-48+31399C>G
c.-48+31399C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487917
chr2:54487967 C
C
 G
G
 1 a0001c0023t0005g0283
a0001c0023t0005g0283
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.-48+31449C>G
c.-48+31449C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487967
chr2:54487975 G
G
 A
A
 4 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(1): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0135
 4 HG01884.hp2
HG02280.hp2
NA19030.hp1
others(1): Show 
HG01884.hp2
HG02280.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-48+31457G>A
c.-48+31457G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487975
chr2:54487983 C
C
 T
T
 33 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0018g0180
others(30): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0330
a0001c0002t0006g0114
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0034g0003
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 33 HG02055.hp2
HG02080.hp2
HG02165.hp1
others(30): Show 
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18962.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18993.hp2
NA18994.hp2
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19074.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+31465C>T
c.-48+31465C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54487983
chr2:54488030 T
T
 C
C
 2 a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0068
a0001c0004t0004g0071
 2 HG02080.hp1
NA19083.hp2
HG02080.hp1
NA19083.hp2
 intron_variant MODIFIER c.-48+31512T>C
c.-48+31512T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488030
chr2:54488068 A
A
 G
G
 1 a0001c0003t0003g0074
a0001c0003t0003g0074
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.-48+31550A>G
c.-48+31550A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488068
chr2:54488109 G
G
 A
A
 1 a0001c0007t0013g0108
a0001c0007t0013g0108
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-48+31591G>A
c.-48+31591G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488109
chr2:54488163 C
C
 T
T
 10 a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0005t0003g0047
others(7): Show 
a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0005t0003g0047
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0018t0007g0112
a0001c0018t0042g0027
a0008c0030t0030g0174
 10 HG00738.hp1
HG02257.hp2
HG02559.hp2
others(7): Show 
HG00738.hp1
HG02257.hp2
HG02559.hp2
HG02717.hp2
HG02976.hp2
HG03195.hp2
HG03225.hp1
NA18522.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.-48+31645C>T
c.-48+31645C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488163
chr2:54488201 T
T
 C
C
 5 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
others(2): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0008t0005g0306
 5 HG02055.hp1
HG02970.hp2
HG02976.hp1
others(2): Show 
HG02055.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
 intron_variant MODIFIER c.-48+31683T>C
c.-48+31683T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488201
chr2:54488326 C
C
 T
T
 14 a0001c0001t0005g0221
a0001c0001t0005g0353
a0001c0001t0014g0104
others(11): Show 
a0001c0001t0005g0221
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
a0001c0016t0005g0064
a0002c0006t0003g0200
 14 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(11): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03654.hp1
HG03669.hp2
HG04204.hp1
HG04204.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+31808C>T
c.-48+31808C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488326
chr2:54488343 C
C
 T
T
 7 a0001c0001t0005g0136
a0001c0001t0005g0341
a0001c0002t0001g0111
others(4): Show 
a0001c0001t0005g0136
a0001c0001t0005g0341
a0001c0002t0001g0111
a0001c0002t0001g0204
a0001c0002t0029g0339
a0001c0004t0004g0318
a0001c0007t0001g0302
 7 HG00099.hp2
HG00639.hp2
HG00741.hp1
others(4): Show 
HG00099.hp2
HG00639.hp2
HG00741.hp1
HG01175.hp2
HG01256.hp2
HG01361.hp2
NA20752.hp2
 intron_variant MODIFIER c.-48+31825C>T
c.-48+31825C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488343
chr2:54488344 G
G
 A
A
 2 a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0253
a0001c0005t0011g0254
 2 HG02572.hp1
HG03209.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.-48+31826G>A
c.-48+31826G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488344
chr2:54488612 A
A
 C
C
 31 a0001c0001t0002g0094
a0001c0001t0004g0070
a0001c0001t0004g0091
others(28): Show 
a0001c0001t0002g0094
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0004c0032t0004g0329
 31 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(28): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02080.hp1
HG02602.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG03490.hp1
HG04184.hp1
NA18952.hp1
NA18979.hp1
NA19001.hp2
NA19005.hp2
NA19054.hp1
NA19062.hp1
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.-48+32094A>C
c.-48+32094A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488612
chr2:54488656 T
T
 C
C
 11 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0014t0001g0013
others(8): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
 11 NA18955.hp2
NA18957.hp2
NA18974.hp1
others(8): Show 
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18985.hp2
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp1
NA19058.hp2
NA19083.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+32138T>C
c.-48+32138T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488656
chr2:54488830 A
A
 G
G
 5 a0001c0001t0007g0196
a0001c0004t0004g0193
a0001c0004t0004g0194
others(2): Show 
a0001c0001t0007g0196
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 5 NA18945.hp2
NA18957.hp1
NA18993.hp1
others(2): Show 
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA19000.hp2
NA19084.hp2
 intron_variant MODIFIER c.-48+32312A>G
c.-48+32312A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488830
chr2:54488904 G
G
 A
A
 2 a0001c0003t0003g0304
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0135
 2 HG01884.hp2
NA19030.hp1
HG01884.hp2
NA19030.hp1
 intron_variant MODIFIER c.-48+32386G>A
c.-48+32386G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488904
chr2:54488974 T
T
 C
C
 35 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0018g0180
others(32): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0330
a0001c0002t0006g0114
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 35 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(32): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18962.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18993.hp2
NA18994.hp2
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19074.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-48+32456T>C
c.-48+32456T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54488974
chr2:54489073 C
C
 T
T
 1 a0001c0002t0004g0101
a0001c0002t0004g0101
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.-48+32555C>T
c.-48+32555C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489073
chr2:54489081 G
G
 A
A
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-48+32563G>A
c.-48+32563G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489081
chr2:54489151 TA
TA
 T
T
 144 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0351
others(141): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0005g0309
a0001c0001t0005g0322
a0001c0001t0005g0353
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0282
a0001c0001t0019g0241
a0001c0001t0041g0247
a0001c0001t0050g0242
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0008g0041
a0001c0005t0008g0056
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0250
a0001c0007t0013g0043
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0015t0002g0212
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0200
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
 144 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02080.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18959.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19076.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-48+32657delA
c.-48+32657delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54489151
chr2:54489151 TAA
TAA
 T
T
 7 a0001c0002t0001g0086
a0001c0003t0003g0036
a0001c0003t0003g0256
others(4): Show 
a0001c0002t0001g0086
a0001c0003t0003g0036
a0001c0003t0003g0256
a0001c0003t0003g0304
a0001c0004t0004g0195
a0001c0012t0016g0135
a0001c0021t0001g0197
 7 HG01884.hp2
HG02109.hp1
HG02897.hp2
others(4): Show 
HG01884.hp2
HG02109.hp1
HG02897.hp2
NA18946.hp2
NA18978.hp2
NA18993.hp1
NA19030.hp1
 intron_variant MODIFIER c.-48+32656_-48+3265
others(6): Show 
c.-48+32656_-48+32657delAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54489151
chr2:54489151 TAAA
TAAA
 T
T
 64 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(61): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 64 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(61): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+32655_-48+3265
others(7): Show 
c.-48+32655_-48+32657delAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54489151
chr2:54489152 A
A
 T
T
 3 a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0039g0058
a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0039g0058
 3 HG01255.hp1
HG02622.hp1
NA20752.hp1
HG01255.hp1
HG02622.hp1
NA20752.hp1
 intron_variant MODIFIER c.-48+32634A>T
c.-48+32634A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489152
chr2:54489163 A
A
 C
C
 1 a0001c0007t0013g0044
a0001c0007t0013g0044
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-48+32645A>C
c.-48+32645A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489163
chr2:54489164 A
A
 C
C
 83 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
others(80): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0005g0309
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0013g0043
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 83 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(80): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02615.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18959.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19076.hp2
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+32646A>C
c.-48+32646A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489164
chr2:54489178 A
A
 C
C
 12 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
others(9): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 12 HG01346.hp2
HG01884.hp1
HG02109.hp1
others(9): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+32660A>C
c.-48+32660A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489178
chr2:54489251 G
G
 A
A
 1 a0001c0007t0013g0137
a0001c0007t0013g0137
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-48+32733G>A
c.-48+32733G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489251
chr2:54489306 G
G
 A
A
 1 a0001c0001t0002g0350
a0001c0001t0002g0350
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.-48+32788G>A
c.-48+32788G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489306
chr2:54489320 C
C
 CA
CA
 8 a0001c0001t0002g0017
a0001c0001t0002g0217
a0001c0001t0005g0206
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0217
a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
a0001c0001t0007g0347
a0001c0005t0043g0039
a0001c0016t0005g0064
 8 HG02027.hp2
HG02886.hp1
HG03654.hp1
others(5): Show 
HG02027.hp2
HG02886.hp1
HG03654.hp1
NA18978.hp1
NA18985.hp1
NA18990.hp1
NA18994.hp1
NA19074.hp1
 intron_variant MODIFIER c.-48+32816dupA
c.-48+32816dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54489320
chr2:54489486 A
A
 G
G
 1 a0002c0006t0003g0151
a0002c0006t0003g0151
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.-48+32968A>G
c.-48+32968A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489486
chr2:54489533 T
T
 TC
TC
 70 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(67): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 70 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(67): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+33015_-48+3301
others(5): Show 
c.-48+33015_-48+33016insC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489533
chr2:54489561 G
G
 C
C
 1 a0001c0002t0006g0154
a0001c0002t0006g0154
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.-48+33043G>C
c.-48+33043G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489561
chr2:54489570 T
T
 A
A
 2 a0001c0005t0043g0039
a0008c0030t0030g0174
a0001c0005t0043g0039
a0008c0030t0030g0174
 2 HG02717.hp2
HG02886.hp1
HG02717.hp2
HG02886.hp1
 intron_variant MODIFIER c.-48+33052T>A
c.-48+33052T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489570
chr2:54489654 G
G
 A
A
 1 a0001c0012t0016g0135
a0001c0012t0016g0135
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-48+33136G>A
c.-48+33136G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489654
chr2:54489684 G
G
 T
T
 7 a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
others(4): Show 
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0036g0361
 7 HG00099.hp1
HG01109.hp1
HG01256.hp1
others(4): Show 
HG00099.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02698.hp2
 intron_variant MODIFIER c.-48+33166G>T
c.-48+33166G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489684
chr2:54489719 C
C
 T
T
 3 a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0039g0058
a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0039g0058
 3 HG01255.hp1
HG02622.hp1
NA20752.hp1
HG01255.hp1
HG02622.hp1
NA20752.hp1
 intron_variant MODIFIER c.-48+33201C>T
c.-48+33201C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489719
chr2:54489745 C
C
 G
G
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-48+33227C>G
c.-48+33227C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54489745
chr2:54490031 G
G
 T
T
 70 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(67): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 70 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(67): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+33513G>T
c.-48+33513G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490031
chr2:54490077 GA
GA
 G
G
 33 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(30): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0002t0001g0065
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0287
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0010c0034t0001g0002
 33 HG00408.hp1
HG00558.hp2
HG02004.hp1
others(30): Show 
HG00408.hp1
HG00558.hp2
HG02004.hp1
HG02040.hp1
HG02083.hp1
HG03491.hp2
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19054.hp2
NA19055.hp2
NA19081.hp1
NA19085.hp1
 intron_variant MODIFIER c.-48+33561delA
c.-48+33561delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54490077
chr2:54490079 A
A
 AT
AT
 8 a0001c0001t0002g0094
a0001c0001t0002g0217
a0001c0001t0004g0092
others(5): Show 
a0001c0001t0002g0094
a0001c0001t0002g0217
a0001c0001t0004g0092
a0001c0001t0004g0213
a0001c0001t0005g0206
a0001c0004t0004g0201
a0001c0004t0010g0175
a0001c0005t0008g0056
 8 HG02572.hp2
HG03927.hp1
NA18940.hp2
others(5): Show 
HG02572.hp2
HG03927.hp1
NA18940.hp2
NA18978.hp1
NA19054.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
 intron_variant MODIFIER c.-48+33578dupT
c.-48+33578dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54490079
chr2:54490079 A
A
 T
T
 2 a0001c0001t0007g0196
a0001c0007t0001g0222
a0001c0001t0007g0196
a0001c0007t0001g0222
 2 NA19056.hp1
NA19084.hp2
NA19056.hp1
NA19084.hp2
 intron_variant MODIFIER c.-48+33561A>T
c.-48+33561A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490079
chr2:54490079 AT
AT
 A
A
 199 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(196): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0103
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0029
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0009c0022t0051g0078
 199 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(196): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+33578delT
c.-48+33578delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54490079
chr2:54490103 C
C
 T
T
 153 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(150): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 153 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(150): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+33585C>T
c.-48+33585C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490103
chr2:54490104 G
G
 A
A
 1 a0001c0007t0001g0192
a0001c0007t0001g0192
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.-48+33586G>A
c.-48+33586G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490104
chr2:54490146 A
A
 C
C
 1 a0002c0006t0003g0151
a0002c0006t0003g0151
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.-48+33628A>C
c.-48+33628A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490146
chr2:54490287 G
G
 A
A
 2 a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0325
a0001c0002t0001g0326
 2 NA18969.hp1
NA19001.hp1
NA18969.hp1
NA19001.hp1
 intron_variant MODIFIER c.-48+33769G>A
c.-48+33769G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490287
chr2:54490319 G
G
 A
A
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.-48+33801G>A
c.-48+33801G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490319
chr2:54490482 A
A
 G
G
 12 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
others(9): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 12 HG01346.hp2
HG01884.hp1
HG02109.hp1
others(9): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-48+33964A>G
c.-48+33964A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490482
chr2:54490568 T
T
 C
C
 12 a0001c0001t0005g0221
a0001c0001t0005g0353
a0001c0001t0014g0104
others(9): Show 
a0001c0001t0005g0221
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0008t0005g0306
a0001c0016t0005g0064
a0002c0006t0003g0200
 12 HG02055.hp1
HG02738.hp2
HG02970.hp2
others(9): Show 
HG02055.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03654.hp1
HG03669.hp2
HG04204.hp1
HG04204.hp2
NA20905.hp2
 intron_variant MODIFIER c.-48+34050T>C
c.-48+34050T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490568
chr2:54490576 C
C
 G
G
 76 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(73): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0031
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0047
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0012t0016g0026
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 76 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(73): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+34058C>G
c.-48+34058C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490576
chr2:54490622 T
T
 G
G
 1 a0002c0006t0003g0016
a0002c0006t0003g0016
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.-48+34104T>G
c.-48+34104T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490622
chr2:54490866 T
T
 C
C
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+34348T>C
c.-48+34348T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490866
chr2:54490885 T
T
 C
C
 126 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(123): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
 126 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(123): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-48+34367T>C
c.-48+34367T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54490885
chr2:54491044 T
T
 C
C
 244 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(241): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 244 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(241): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-48+34526T>C
c.-48+34526T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491044
chr2:54491207 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.-48+34689C>T
c.-48+34689C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491207
chr2:54491305 C
C
 G
G
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
 9 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-48+34787C>G
c.-48+34787C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491305
chr2:54491338 A
A
 G
G
 2 a0001c0001t0010g0238
a0001c0002t0001g0103
a0001c0001t0010g0238
a0001c0002t0001g0103
 2 HG02698.hp1
HG02970.hp1
HG02698.hp1
HG02970.hp1
 intron_variant MODIFIER c.-48+34820A>G
c.-48+34820A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491338
chr2:54491352 T
T
 A
A
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.-48+34834T>A
c.-48+34834T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491352
chr2:54491359 A
A
 G
G
 1 a0001c0004t0004g0071
a0001c0004t0004g0071
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.-48+34841A>G
c.-48+34841A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491359
chr2:54491448 T
T
 C
C
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-47-34924T>C
c.-47-34924T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491448
chr2:54491651 GC
GC
 G
G
 47 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(44): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 47 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(44): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-34720delC
c.-47-34720delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491651
chr2:54491668 C
C
 T
T
 70 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(67): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 70 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(67): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-34704C>T
c.-47-34704C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491668
chr2:54491800 C
C
 T
T
 2 a0001c0001t0001g0087
a0001c0002t0006g0116
a0001c0001t0001g0087
a0001c0002t0006g0116
 2 HG02004.hp1
NA19054.hp2
HG02004.hp1
NA19054.hp2
 intron_variant MODIFIER c.-47-34572C>T
c.-47-34572C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491800
chr2:54491860 A
A
 G
G
 1 a0002c0006t0003g0179
a0002c0006t0003g0179
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.-47-34512A>G
c.-47-34512A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491860
chr2:54491984 A
A
 G
G
 167 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(164): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 167 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(164): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-34388A>G
c.-47-34388A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54491984
chr2:54492266 G
G
 T
T
 1 a0001c0001t0002g0208
a0001c0001t0002g0208
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.-47-34106G>T
c.-47-34106G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492266
chr2:54492337 A
A
 G
G
 70 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(67): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 70 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(67): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-34035A>G
c.-47-34035A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492337
chr2:54492338 GTT
GTT
 G
G
 54 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0090
others(51): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0117
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0028g0294
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 54 HG00140.hp1
HG00323.hp2
HG00408.hp1
others(51): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18964.hp1
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18986.hp2
NA18987.hp1
NA18992.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
 intron_variant MODIFIER c.-47-34033_-47-3403
others(6): Show 
c.-47-34033_-47-34032delTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492338
chr2:54492339 T
T
 G
G
 16 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(13): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0005g0291
a0001c0001t0029g0100
a0001c0002t0001g0066
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0275
a0001c0002t0001g0335
a0001c0002t0006g0284
a0001c0002t0028g0295
a0001c0004t0004g0195
a0001c0009t0007g0288
a0001c0009t0045g0298
 16 HG00280.hp2
HG00558.hp2
HG00735.hp1
others(13): Show 
HG00280.hp2
HG00558.hp2
HG00735.hp1
HG01071.hp1
HG01169.hp2
HG01192.hp2
HG01978.hp2
HG02155.hp1
NA18944.hp1
NA18950.hp2
NA18963.hp2
NA18964.hp2
NA18978.hp2
NA18989.hp2
NA18993.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-34033T>G
c.-47-34033T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492339
chr2:54492340 TG
TG
 T
T
 16 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(13): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0005g0291
a0001c0001t0029g0100
a0001c0002t0001g0066
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0275
a0001c0002t0001g0335
a0001c0002t0006g0284
a0001c0002t0028g0295
a0001c0004t0004g0195
a0001c0009t0007g0288
a0001c0009t0045g0298
 16 HG00280.hp2
HG00558.hp2
HG00735.hp1
others(13): Show 
HG00280.hp2
HG00558.hp2
HG00735.hp1
HG01071.hp1
HG01169.hp2
HG01192.hp2
HG01978.hp2
HG02155.hp1
NA18944.hp1
NA18950.hp2
NA18963.hp2
NA18964.hp2
NA18978.hp2
NA18989.hp2
NA18993.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-34031delG
c.-47-34031delG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492340
chr2:54492341 G
G
 GT
GT
 47 a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
others(44): Show 
a0001c0001t0002g0351
a0001c0001t0010g0238
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0149
a0001c0002t0006g0313
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0004t0004g0358
a0001c0005t0008g0176
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0007t0013g0044
a0001c0008t0005g0306
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 47 HG00099.hp1
HG00423.hp1
HG00438.hp1
others(44): Show 
HG00099.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02897.hp2
HG02970.hp1
HG03130.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19068.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-34024dupT
c.-47-34024dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54492341
chr2:54492341 G
G
 GTT
GTT
 15 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0037
others(12): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0005t0008g0041
a0001c0005t0043g0039
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
 15 HG00280.hp1
HG01168.hp2
HG02280.hp2
others(12): Show 
HG00280.hp1
HG01168.hp2
HG02280.hp2
HG02486.hp2
HG02698.hp2
HG02886.hp1
HG03098.hp2
HG03209.hp1
HG03579.hp2
HG03831.hp1
NA18940.hp1
NA18990.hp2
NA19067.hp1
NA19086.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-34025_-47-3402
others(6): Show 
c.-47-34025_-47-34024dupTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54492341
chr2:54492346 T
T
 TTG
TTG
 4 a0001c0002t0001g0028
a0001c0002t0001g0324
a0001c0002t0001g0325
others(1): Show 
a0001c0002t0001g0028
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
 4 NA18959.hp2
NA18969.hp1
NA19001.hp1
others(1): Show 
NA18959.hp2
NA18969.hp1
NA19001.hp1
NA19082.hp1
 intron_variant MODIFIER c.-47-34025_-47-3402
others(6): Show 
c.-47-34025_-47-34024insGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54492346
chr2:54492347 T
T
 TG
TG
 24 a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
others(21): Show 
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0034g0003
a0001c0012t0016g0153
a0001c0012t0016g0189
a0002c0006t0003g0179
a0005c0028t0001g0006
 24 HG02055.hp2
HG02080.hp2
HG02165.hp1
others(21): Show 
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03130.hp2
NA18944.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18971.hp1
NA18983.hp1
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19000.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19086.hp1
 intron_variant MODIFIER c.-47-34025_-47-3402
others(5): Show 
c.-47-34025_-47-34024insG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492347
chr2:54492348 T
T
 G
G
 19 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0019g0183
others(16): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0019g0183
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0007t0001g0302
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
 19 HG01256.hp2
HG02280.hp1
HG02602.hp1
others(16): Show 
HG01256.hp2
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG03041.hp2
HG03225.hp2
HG03453.hp2
HG04228.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18985.hp2
NA18994.hp2
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19083.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-34024T>G
c.-47-34024T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492348
chr2:54492349 G
G
 GT
GT
 12 a0001c0001t0002g0018
a0001c0001t0002g0169
a0001c0001t0002g0350
others(9): Show 
a0001c0001t0002g0018
a0001c0001t0002g0169
a0001c0001t0002g0350
a0001c0001t0005g0346
a0001c0001t0007g0347
a0001c0001t0039g0058
a0001c0002t0001g0204
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0317
a0001c0005t0008g0056
 12 HG00741.hp1
HG01517.hp2
HG02027.hp1
others(9): Show 
HG00741.hp1
HG01517.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02572.hp2
HG02622.hp1
HG04184.hp1
NA18946.hp1
NA18994.hp1
NA19083.hp2
NA19090.hp1
 intron_variant MODIFIER c.-47-34008dupT
c.-47-34008dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54492349
chr2:54492349 G
G
 T
T
 244 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(241): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 244 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(241): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-34023G>T
c.-47-34023G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492349
chr2:54492550 A
A
 G
G
 47 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(44): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 47 HG01256.hp2
HG02055.hp2
HG02080.hp2
others(44): Show 
HG01256.hp2
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-33822A>G
c.-47-33822A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492550
chr2:54492657 G
G
 A
A
 1 a0002c0006t0003g0152
a0002c0006t0003g0152
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.-47-33715G>A
c.-47-33715G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492657
chr2:54492830 A
A
 G
G
 1 a0001c0005t0011g0051
a0001c0005t0011g0051
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-47-33542A>G
c.-47-33542A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492830
chr2:54492844 ACT
ACT
 A
A
 11 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
others(8): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 11 HG01346.hp2
HG01884.hp1
HG02109.hp1
others(8): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp1
HG02486.hp2
HG02630.hp2
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-47-33525_-47-3352
others(6): Show 
c.-47-33525_-47-33524delCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54492844
chr2:54492928 C
C
 G
G
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-47-33444C>G
c.-47-33444C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492928
chr2:54492950 A
A
 G
G
 1 a0001c0001t0040g0300
a0001c0001t0040g0300
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.-47-33422A>G
c.-47-33422A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54492950
chr2:54493001 C
C
 CT
CT
 29 a0001c0001t0002g0163
a0001c0001t0002g0239
a0001c0001t0005g0106
others(26): Show 
a0001c0001t0002g0163
a0001c0001t0002g0239
a0001c0001t0005g0106
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0005g0354
a0001c0001t0049g0076
a0001c0002t0001g0326
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0201
a0001c0004t0004g0209
a0001c0005t0008g0041
a0001c0005t0008g0368
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0043g0039
a0001c0007t0013g0044
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0015t0002g0212
a0002c0006t0003g0151
 29 HG00738.hp1
HG01123.hp2
HG01255.hp1
others(26): Show 
HG00738.hp1
HG01123.hp2
HG01255.hp1
HG01346.hp2
HG01884.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02886.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03516.hp2
HG03540.hp2
HG03927.hp2
NA18906.hp1
NA18940.hp2
NA18977.hp2
NA18994.hp2
NA19000.hp1
NA19001.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
 intron_variant MODIFIER c.-47-33349dupT
c.-47-33349dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54493001
chr2:54493001 CT
CT
 C
C
 60 a0001c0001t0002g0351
a0001c0001t0004g0091
a0001c0001t0005g0353
others(57): Show 
a0001c0001t0002g0351
a0001c0001t0004g0091
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0121
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0328
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0235
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0033g0172
a0001c0004t0004g0096
a0001c0004t0004g0107
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0052
a0001c0008t0005g0306
a0001c0009t0007g0272
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp2
HG04115.hp2
NA18522.hp1
NA18941.hp2
NA18946.hp2
NA18950.hp1
NA18954.hp2
NA18968.hp2
NA18982.hp1
NA18986.hp1
NA18989.hp2
NA18990.hp2
NA19000.hp2
NA19010.hp2
NA19056.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.-47-33349delT
c.-47-33349delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54493001
chr2:54493001 CTT
CTT
 C
C
 67 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(64): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0124
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0003t0009g0234
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0023t0005g0283
a0001c0029t0007g0290
a0002c0006t0003g0200
a0009c0022t0051g0078
a0010c0034t0001g0002
 67 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(64): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18992.hp1
NA18993.hp1
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19062.hp2
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-33350_-47-3334
others(6): Show 
c.-47-33350_-47-33349delTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54493001
chr2:54493001 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.-47-33358_-47-3334
others(14): Show 
c.-47-33358_-47-33349delTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54493001
chr2:54493040 C
C
 G
G
 7 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(4): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0002t0001g0083
a0001c0002t0006g0089
a0001c0010t0002g0140
 7 NA18941.hp1
NA18944.hp1
NA18950.hp2
others(4): Show 
NA18941.hp1
NA18944.hp1
NA18950.hp2
NA18963.hp2
NA18964.hp1
NA18986.hp2
NA18987.hp1
 intron_variant MODIFIER c.-47-33332C>G
c.-47-33332C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493040
chr2:54493142 A
A
 G
G
 1 a0001c0001t0002g0316
a0001c0001t0002g0316
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.-47-33230A>G
c.-47-33230A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493142
chr2:54493202 C
C
 T
T
 1 a0001c0008t0005g0045
a0001c0008t0005g0045
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.-47-33170C>T
c.-47-33170C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493202
chr2:54493340 T
T
 A
A
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
 9 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-33032T>A
c.-47-33032T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493340
chr2:54493344 T
T
 A
A
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-47-33028T>A
c.-47-33028T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493344
chr2:54493412 T
T
 TGGGGGG
TGGGGGG
 46 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0085
others(43): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0085
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0082
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0273
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0014t0037g0011
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 46 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(43): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01257.hp1
HG01433.hp1
HG01943.hp1
HG01975.hp1
HG02004.hp1
HG02040.hp1
HG02155.hp1
HG02486.hp1
HG02698.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG06807.hp2
NA18612.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18977.hp1
NA18989.hp2
NA19000.hp2
NA19002.hp2
NA19054.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-32959_-47-3295
others(10): Show 
c.-47-32959_-47-32954dupGGGGGG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54493412
chr2:54493427 G
G
 A
A
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-47-32945G>A
c.-47-32945G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493427
chr2:54493559 G
G
 A
A
 1 a0001c0033t0007g0248
a0001c0033t0007g0248
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.-47-32813G>A
c.-47-32813G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493559
chr2:54493647 C
C
 T
T
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-47-32725C>T
c.-47-32725C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493647
chr2:54493686 G
G
 A
A
 1 a0002c0006t0003g0178
a0002c0006t0003g0178
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.-47-32686G>A
c.-47-32686G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493686
chr2:54493691 C
C
 T
T
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
 9 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-32681C>T
c.-47-32681C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493691
chr2:54493735 T
T
 G
G
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
 9 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-32637T>G
c.-47-32637T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493735
chr2:54493739 G
G
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-47-32633G>T
c.-47-32633G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493739
chr2:54493766 A
A
 G
G
 247 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
others(244): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0322
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 247 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(244): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-32606A>G
c.-47-32606A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493766
chr2:54493847 G
G
 C
C
 4 a0001c0007t0013g0137
a0001c0018t0007g0112
a0001c0018t0042g0027
others(1): Show 
a0001c0007t0013g0137
a0001c0018t0007g0112
a0001c0018t0042g0027
a0008c0030t0030g0174
 4 HG02559.hp2
HG02717.hp2
HG02976.hp2
others(1): Show 
HG02559.hp2
HG02717.hp2
HG02976.hp2
HG03195.hp2
 intron_variant MODIFIER c.-47-32525G>C
c.-47-32525G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493847
chr2:54493854 T
T
 A
A
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.-47-32518T>A
c.-47-32518T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493854
chr2:54493934 G
G
 A
A
 20 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(17): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0008t0005g0306
a0001c0016t0005g0064
a0002c0006t0003g0200
 20 HG01109.hp2
HG01167.hp2
HG01255.hp2
others(17): Show 
HG01109.hp2
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02258.hp1
HG02451.hp2
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA20905.hp2
 intron_variant MODIFIER c.-47-32438G>A
c.-47-32438G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493934
chr2:54493961 C
C
 G
G
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-47-32411C>G
c.-47-32411C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493961
chr2:54493977 C
C
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.-47-32395C>G
c.-47-32395C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54493977
chr2:54494093 G
G
 A
A
 1 a0001c0001t0002g0095
a0001c0001t0002g0095
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.-47-32279G>A
c.-47-32279G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494093
chr2:54494154 A
A
 G
G
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-47-32218A>G
c.-47-32218A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494154
chr2:54494156 GACTT
GACTT
 G
G
 4 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(1): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0135
 4 HG01884.hp2
HG02280.hp2
NA19030.hp1
others(1): Show 
HG01884.hp2
HG02280.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-32211_-47-3220
others(8): Show 
c.-47-32211_-47-32208delACTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54494156
chr2:54494249 G
G
 T
T
 1 a0001c0005t0003g0047
a0001c0005t0003g0047
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-47-32123G>T
c.-47-32123G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494249
chr2:54494254 A
A
 G
G
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-47-32118A>G
c.-47-32118A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494254
chr2:54494424 G
G
 T
T
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-47-31948G>T
c.-47-31948G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494424
chr2:54494466 A
A
 G
G
 1 a0001c0002t0006g0089
a0001c0002t0006g0089
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.-47-31906A>G
c.-47-31906A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494466
chr2:54494476 A
A
 G
G
 1 a0001c0003t0003g0356
a0001c0003t0003g0356
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.-47-31896A>G
c.-47-31896A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494476
chr2:54494885 A
A
 G
G
 1 a0001c0005t0003g0190
a0001c0005t0003g0190
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-47-31487A>G
c.-47-31487A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494885
chr2:54494894 A
A
 G
G
 3 a0001c0001t0002g0225
a0001c0001t0004g0093
a0001c0010t0002g0199
a0001c0001t0002g0225
a0001c0001t0004g0093
a0001c0010t0002g0199
 3 HG02155.hp2
NA18970.hp1
NA18979.hp1
HG02155.hp2
NA18970.hp1
NA18979.hp1
 intron_variant MODIFIER c.-47-31478A>G
c.-47-31478A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494894
chr2:54494908 GT
GT
 G
G
 24 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(21): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0006g0089
a0001c0005t0003g0047
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0010t0002g0140
 24 HG02109.hp2
HG02145.hp2
HG02280.hp2
others(21): Show 
HG02109.hp2
HG02145.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02630.hp1
HG02809.hp1
HG02886.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
NA18522.hp2
NA18941.hp1
NA18944.hp1
NA18950.hp2
NA18963.hp2
NA18964.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA19030.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-31455delT
c.-47-31455delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54494908
chr2:54494910 T
T
 A
A
 46 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(43): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0034g0003
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 46 HG02055.hp2
HG02080.hp2
HG02165.hp1
others(43): Show 
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-31462T>A
c.-47-31462T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494910
chr2:54494916 TTA
TTA
 T
T
 26 a0001c0001t0001g0156
a0001c0002t0001g0147
a0001c0002t0006g0148
others(23): Show 
a0001c0001t0001g0156
a0001c0002t0001g0147
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0004t0004g0170
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 26 HG00738.hp2
HG00741.hp2
HG01123.hp1
others(23): Show 
HG00738.hp2
HG00741.hp2
HG01123.hp1
HG01175.hp1
HG01346.hp2
HG01361.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02109.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02486.hp2
HG02630.hp2
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03669.hp1
NA18906.hp1
 intron_variant MODIFIER c.-47-31455_-47-3145
others(6): Show 
c.-47-31455_-47-31454delTA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494916
chr2:54494917 T
T
 A
A
 2 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0002g0249
a0001c0001t0002g0367
 2 HG02717.hp1
HG02922.hp1
HG02717.hp1
HG02922.hp1
 intron_variant MODIFIER c.-47-31455T>A
c.-47-31455T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494917
chr2:54494917 TA
TA
 T
T
 186 a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0020
others(183): Show 
a0001c0001t0001g0087
a0001c0001t0002g0015
a0001c0001t0002g0020
a0001c0001t0002g0030
a0001c0001t0002g0079
a0001c0001t0002g0090
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0096
a0001c0004t0004g0107
a0001c0004t0004g0193
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0137
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 186 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(183): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-31442delA
c.-47-31442delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54494917
chr2:54494917 TAA
TAA
 T
T
 8 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(5): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0002t0001g0325
a0001c0003t0003g0304
a0001c0004t0004g0194
a0001c0012t0016g0135
 8 HG01167.hp2
HG01255.hp2
HG01884.hp2
others(5): Show 
HG01167.hp2
HG01255.hp2
HG01884.hp2
HG02451.hp2
HG06807.hp1
NA18957.hp1
NA18969.hp1
NA19030.hp1
 intron_variant MODIFIER c.-47-31443_-47-3144
others(6): Show 
c.-47-31443_-47-31442delAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54494917
chr2:54494918 A
A
 T
T
 5 a0001c0001t0004g0091
a0001c0001t0005g0342
a0001c0002t0006g0116
others(2): Show 
a0001c0001t0004g0091
a0001c0001t0005g0342
a0001c0002t0006g0116
a0001c0005t0003g0004
a0001c0005t0003g0005
 5 HG02004.hp1
HG03516.hp1
HG03831.hp2
others(2): Show 
HG02004.hp1
HG03516.hp1
HG03831.hp2
NA19091.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-31454A>T
c.-47-31454A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494918
chr2:54494919 A
A
 T
T
 49 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(46): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0034g0003
a0001c0007t0013g0137
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0018t0007g0112
a0001c0018t0042g0027
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 49 HG02055.hp2
HG02080.hp2
HG02165.hp1
others(46): Show 
HG02055.hp2
HG02080.hp2
HG02165.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-31453A>T
c.-47-31453A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494919
chr2:54494920 A
A
 T
T
 2 a0001c0002t0001g0325
a0001c0012t0016g0135
a0001c0002t0001g0325
a0001c0012t0016g0135
 2 NA18969.hp1
NA19030.hp1
NA18969.hp1
NA19030.hp1
 intron_variant MODIFIER c.-47-31452A>T
c.-47-31452A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494920
chr2:54494981 T
T
 C
C
 8 a0001c0001t0041g0247
a0001c0004t0007g0110
a0001c0004t0007g0173
others(5): Show 
a0001c0001t0041g0247
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0033t0007g0248
 8 HG01071.hp2
HG01081.hp2
HG01261.hp1
others(5): Show 
HG01071.hp2
HG01081.hp2
HG01261.hp1
HG01981.hp1
HG02145.hp1
HG03688.hp2
HG03927.hp1
NA20905.hp1
 intron_variant MODIFIER c.-47-31391T>C
c.-47-31391T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54494981
chr2:54495007 C
C
 T
T
 1 a0001c0007t0013g0137
a0001c0007t0013g0137
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-47-31365C>T
c.-47-31365C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495007
chr2:54495019 C
C
 T
T
 2 a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0019t0012g0246
a0001c0019t0012g0252
 2 HG02622.hp2
HG03540.hp1
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.-47-31353C>T
c.-47-31353C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495019
chr2:54495053 G
G
 A
A
 6 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(3): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0031g0187
 6 HG02886.hp2
HG03471.hp1
HG03540.hp2
others(3): Show 
HG02886.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-31319G>A
c.-47-31319G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495053
chr2:54495156 A
A
 G
G
 3 a0001c0001t0005g0291
a0001c0003t0003g0292
a0001c0029t0007g0290
a0001c0001t0005g0291
a0001c0003t0003g0292
a0001c0029t0007g0290
 3 HG01106.hp1
HG06807.hp2
homoSapiens_chm13v2.hp1
HG01106.hp1
HG06807.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-31216A>G
c.-47-31216A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495156
chr2:54495160 TAGG
TAGG
 T
T
 70 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
others(67): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 70 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(67): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-31208_-47-3120
others(7): Show 
c.-47-31208_-47-31206delAGG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54495160
chr2:54495384 A
A
 G
G
 10 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(7): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0005t0031g0187
 10 HG02559.hp1
HG02572.hp1
HG02647.hp1
others(7): Show 
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02886.hp2
HG03209.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-30988A>G
c.-47-30988A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495384
chr2:54495599 A
A
 G
G
 1 a0001c0010t0017g0162
a0001c0010t0017g0162
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.-47-30773A>G
c.-47-30773A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495599
chr2:54495628 A
A
 C
C
 1 a0001c0008t0005g0260
a0001c0008t0005g0260
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.-47-30744A>C
c.-47-30744A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495628
chr2:54495661 C
C
 A
A
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-47-30711C>A
c.-47-30711C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495661
chr2:54495679 T
T
 TTTTTTTT
others(19): Show 
TTTTTTTTTTTTTTTTTTATTATACTC
 3 a0001c0002t0001g0103
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0002t0001g0103
a0001c0009t0007g0288
a0001c0009t0007g0289
 3 HG01167.hp1
HG01169.hp2
HG02698.hp1
HG01167.hp1
HG01169.hp2
HG02698.hp1
 intron_variant MODIFIER c.-47-30692_-47-3069
others(30): Show 
c.-47-30692_-47-30691insTTTTTTTTTTTTTTTTATTATACTCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54495679
chr2:54495679 T
T
 TTTTTTTT
others(20): Show 
TTTTTTTTTTTTTTTTTTTATTATACTC
 14 a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0007g0270
others(11): Show 
a0001c0001t0001g0087
a0001c0001t0002g0079
a0001c0001t0007g0270
a0001c0001t0022g0118
a0001c0002t0001g0065
a0001c0002t0001g0086
a0001c0002t0001g0275
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0336
a0001c0009t0045g0298
a0001c0021t0001g0197
 14 HG00280.hp2
HG00323.hp2
HG00735.hp1
others(11): Show 
HG00280.hp2
HG00323.hp2
HG00735.hp1
HG01106.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG04115.hp1
NA18946.hp2
NA18968.hp1
NA18978.hp2
NA19002.hp2
NA19012.hp2
NA19054.hp2
 intron_variant MODIFIER c.-47-30692_-47-3069
others(31): Show 
c.-47-30692_-47-30691insTTTTTTTTTTTTTTTTTATTATACTC
T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54495679
chr2:54495679 T
T
 TTTTTTTT
others(21): Show 
TTTTTTTTTTTTTTTTTTTTATTATACTC
 45 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
others(42): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0005g0291
a0001c0001t0007g0296
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0003t0003g0292
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0010t0002g0140
a0001c0014t0037g0011
a0001c0023t0005g0283
a0001c0029t0007g0290
a0009c0022t0051g0078
a0010c0034t0001g0002
 45 HG00140.hp1
HG00408.hp1
HG00558.hp2
others(42): Show 
HG00140.hp1
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01257.hp1
HG01517.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02300.hp1
HG02486.hp1
HG03017.hp2
HG03491.hp2
HG03688.hp1
HG03704.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18970.hp2
NA18977.hp1
NA18986.hp2
NA18989.hp2
NA18992.hp1
NA18993.hp1
NA19055.hp2
NA19056.hp1
NA19081.hp1
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-30692_-47-3069
others(32): Show 
c.-47-30692_-47-30691insTTTTTTTTTTTTTTTTTTATTATACT
CT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54495679
chr2:54495679 T
T
 TTTTTTTT
others(22): Show 
TTTTTTTTTTTTTTTTTTTTTATTATACTC
 8 a0001c0001t0007g0196
a0001c0002t0001g0066
a0001c0002t0001g0115
others(5): Show 
a0001c0001t0007g0196
a0001c0002t0001g0066
a0001c0002t0001g0115
a0001c0002t0006g0089
a0001c0002t0047g0279
a0001c0004t0004g0277
a0001c0009t0007g0286
a0001c0009t0010g0088
 8 HG01192.hp2
HG01433.hp1
HG03491.hp1
others(5): Show 
HG01192.hp2
HG01433.hp1
HG03491.hp1
HG03492.hp2
NA18964.hp2
NA18987.hp1
NA19000.hp2
NA19084.hp2
 intron_variant MODIFIER c.-47-30692_-47-3069
others(33): Show 
c.-47-30692_-47-30691insTTTTTTTTTTTTTTTTTTTATTATAC
TCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54495679
chr2:54495700 A
A
 T
T
 3 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0012t0016g0135
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0012t0016g0135
 3 HG02280.hp2
NA19030.hp1
NA21309.hp1
HG02280.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-30672A>T
c.-47-30672A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54495700
chr2:54496066 C
C
 A
A
 165 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
others(162): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0009c0022t0051g0078
a0010c0034t0001g0002
 165 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(162): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-30306C>A
c.-47-30306C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496066
chr2:54496083 A
A
 G
G
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-47-30289A>G
c.-47-30289A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496083
chr2:54496134 T
T
 C
C
 119 a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
others(116): Show 
a0001c0001t0001g0156
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0309
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
 119 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(116): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-30238T>C
c.-47-30238T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496134
chr2:54496236 G
G
 A
A
 1 a0001c0001t0018g0303
a0001c0001t0018g0303
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.-47-30136G>A
c.-47-30136G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496236
chr2:54496415 G
G
 A
A
 1 a0002c0006t0003g0151
a0002c0006t0003g0151
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.-47-29957G>A
c.-47-29957G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496415
chr2:54496432 C
C
 T
T
 2 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0018g0180
a0001c0001t0018g0303
 2 HG02055.hp2
HG02818.hp1
HG02055.hp2
HG02818.hp1
 intron_variant MODIFIER c.-47-29940C>T
c.-47-29940C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496432
chr2:54496439 T
T
 TA
TA
 38 a0001c0001t0002g0090
a0001c0001t0003g0059
a0001c0001t0003g0060
others(35): Show 
a0001c0001t0002g0090
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0359
a0001c0002t0006g0116
a0001c0002t0006g0157
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0009g0235
a0001c0003t0033g0172
a0001c0004t0004g0194
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0008c0030t0030g0174
 38 HG00738.hp1
HG01167.hp2
HG01255.hp2
others(35): Show 
HG00738.hp1
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG01975.hp2
HG02004.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03516.hp1
HG03654.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18957.hp1
NA19030.hp1
NA19055.hp2
NA19056.hp2
NA19068.hp1
NA19086.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-29913dupA
c.-47-29913dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54496439
chr2:54496439 T
T
 TAA
TAA
 149 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
others(146): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0005g0291
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0004g0101
a0001c0002t0006g0089
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0014t0037g0011
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0006c0027t0003g0075
a0007c0024t0009g0232
a0009c0022t0051g0078
a0010c0034t0001g0002
 149 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(146): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-29914_-47-2991
others(6): Show 
c.-47-29914_-47-29913dupAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54496439
chr2:54496439 T
T
 TAAA
TAAA
 7 a0001c0002t0005g0122
a0001c0003t0003g0008
a0001c0003t0003g0305
others(4): Show 
a0001c0002t0005g0122
a0001c0003t0003g0008
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0007t0013g0044
a0001c0008t0005g0306
a0001c0021t0001g0197
 7 HG02055.hp1
HG02145.hp2
HG02970.hp2
others(4): Show 
HG02055.hp1
HG02145.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
NA18946.hp2
 intron_variant MODIFIER c.-47-29915_-47-2991
others(7): Show 
c.-47-29915_-47-29913dupAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54496439
chr2:54496439 T
T
 TTAA
TTAA
 40 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(37): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0051
a0001c0005t0034g0003
a0001c0014t0001g0013
a0001c0014t0001g0029
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
 40 HG02080.hp2
HG02165.hp1
HG02602.hp1
others(37): Show 
HG02080.hp2
HG02165.hp1
HG02602.hp1
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG04228.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-29933_-47-2993
others(7): Show 
c.-47-29933_-47-29932insTAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496439
chr2:54496439 T
T
 TTAAA
TTAAA
 6 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0002t0001g0326
others(3): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0002t0001g0326
a0001c0005t0031g0187
a0001c0012t0016g0153
a0001c0012t0016g0189
 6 HG02055.hp2
HG02809.hp2
HG02818.hp1
others(3): Show 
HG02055.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG03540.hp2
NA19001.hp1
 intron_variant MODIFIER c.-47-29933_-47-2993
others(8): Show 
c.-47-29933_-47-29932insTAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496439
chr2:54496439 TA
TA
 T
T
 10 a0001c0001t0005g0344
a0001c0001t0019g0183
a0001c0001t0020g0032
others(7): Show 
a0001c0001t0005g0344
a0001c0001t0019g0183
a0001c0001t0020g0032
a0001c0002t0001g0111
a0001c0002t0029g0339
a0001c0004t0004g0131
a0001c0004t0004g0218
a0001c0004t0010g0315
a0001c0007t0001g0302
a0001c0018t0042g0027
 10 HG00323.hp1
HG00639.hp2
HG01256.hp2
others(7): Show 
HG00323.hp1
HG00639.hp2
HG01256.hp2
HG01515.hp1
HG02145.hp1
HG02280.hp1
HG02559.hp2
NA18969.hp2
NA19055.hp1
NA20752.hp2
 intron_variant MODIFIER c.-47-29913delA
c.-47-29913delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54496439
chr2:54496441 A
A
 T
T
 1 a0001c0001t0019g0183
a0001c0001t0019g0183
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.-47-29931A>T
c.-47-29931A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496441
chr2:54496551 G
G
 A
A
 156 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
others(153): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0003g0047
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0009c0022t0051g0078
a0010c0034t0001g0002
 156 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(153): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02965.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-29821G>A
c.-47-29821G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496551
chr2:54496604 C
C
 T
T
 72 a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0003g0059
others(69): Show 
a0001c0001t0001g0156
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0048g0025
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0004t0004g0358
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 72 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(69): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp2
HG00741.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02965.hp2
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18990.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-29768C>T
c.-47-29768C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496604
chr2:54496695 C
C
 A
A
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-47-29677C>A
c.-47-29677C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496695
chr2:54496727 C
C
 T
T
 4 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(1): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0135
 4 HG01884.hp2
HG02280.hp2
NA19030.hp1
others(1): Show 
HG01884.hp2
HG02280.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-29645C>T
c.-47-29645C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496727
chr2:54496809 G
G
 T
T
 89 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
others(86): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0137
a0001c0008t0005g0306
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0018t0007g0112
a0001c0018t0042g0027
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0005c0028t0001g0006
a0008c0030t0030g0174
 89 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(86): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18944.hp2
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA18985.hp2
NA18989.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19083.hp1
NA19086.hp1
NA19090.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-47-29563G>T
c.-47-29563G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496809
chr2:54496832 T
T
 C
C
 1 a0001c0007t0013g0137
a0001c0007t0013g0137
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-47-29540T>C
c.-47-29540T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54496832
chr2:54497086 C
C
 T
T
 13 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(10): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0008t0005g0306
 13 HG01109.hp2
HG02055.hp1
HG02258.hp1
others(10): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp1
HG02738.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.-47-29286C>T
c.-47-29286C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54497086
chr2:54497205 G
G
 T
T
 1 a0001c0002t0001g0310
a0001c0002t0001g0310
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.-47-29167G>T
c.-47-29167G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54497205
chr2:54497330 A
A
 G
G
 1 a0002c0006t0003g0151
a0002c0006t0003g0151
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.-47-29042A>G
c.-47-29042A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54497330
chr2:54497604 C
C
 T
T
 1 a0001c0004t0004g0202
a0001c0004t0004g0202
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.-47-28768C>T
c.-47-28768C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54497604
chr2:54497641 C
C
 T
T
 1 a0001c0020t0002g0034
a0001c0020t0002g0034
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.-47-28731C>T
c.-47-28731C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54497641
chr2:54497696 C
C
 G
G
 1 a0001c0001t0005g0291
a0001c0001t0005g0291
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-28676C>G
c.-47-28676C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54497696
chr2:54497855 C
C
 T
T
 53 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(50): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0046g0332
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0008g0041
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0008t0005g0306
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0005c0028t0001g0006
a0008c0030t0030g0174
 53 HG01109.hp2
HG01167.hp2
HG01255.hp2
others(50): Show 
HG01109.hp2
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG01884.hp1
HG02055.hp1
HG02080.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp2
HG03669.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19086.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-28517C>T
c.-47-28517C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54497855
chr2:54497896 G
G
 A
A
 40 a0001c0002t0001g0359
a0001c0002t0048g0025
a0001c0003t0003g0113
others(37): Show 
a0001c0002t0001g0359
a0001c0002t0048g0025
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0025g0250
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0007c0024t0009g0232
 40 HG00140.hp2
HG00280.hp1
HG01109.hp1
others(37): Show 
HG00140.hp2
HG00280.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG02258.hp2
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp2
HG02897.hp2
HG03130.hp1
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA18990.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-28476G>A
c.-47-28476G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54497896
chr2:54498010 A
A
 G
G
 2 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0015
a0001c0001t0002g0030
 2 NA19012.hp1
NA19083.hp1
NA19012.hp1
NA19083.hp1
 intron_variant MODIFIER c.-47-28362A>G
c.-47-28362A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498010
chr2:54498014 A
A
 G
G
 34 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0049g0076
others(31): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0049g0076
a0001c0002t0001g0275
a0001c0003t0003g0304
a0001c0005t0003g0047
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0005t0031g0187
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0002c0006t0003g0200
a0009c0022t0051g0078
 34 HG00735.hp1
HG00738.hp1
HG01106.hp2
others(31): Show 
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-47-28358A>G
c.-47-28358A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498014
chr2:54498067 G
G
 A
A
 2 a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0011t0023g0229
a0001c0011t0023g0230
 2 HG00280.hp1
HG01168.hp2
HG00280.hp1
HG01168.hp2
 intron_variant MODIFIER c.-47-28305G>A
c.-47-28305G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498067
chr2:54498119 A
A
 C
C
 12 a0001c0001t0002g0094
a0001c0001t0004g0091
a0001c0001t0004g0092
others(9): Show 
a0001c0001t0002g0094
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0018g0127
 12 HG00438.hp2
HG00609.hp1
NA18952.hp1
others(9): Show 
HG00438.hp2
HG00609.hp1
NA18952.hp1
NA18979.hp1
NA19001.hp2
NA19054.hp1
NA19062.hp1
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.-47-28253A>C
c.-47-28253A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498119
chr2:54498121 A
A
 G
G
 4 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0002c0006t0003g0200
 4 HG03654.hp1
HG03942.hp2
HG04204.hp1
others(1): Show 
HG03654.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
 intron_variant MODIFIER c.-47-28251A>G
c.-47-28251A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498121
chr2:54498173 G
G
 A
A
 3 a0001c0001t0010g0238
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0001t0010g0238
a0001c0018t0007g0112
a0001c0018t0042g0027
 3 HG02559.hp2
HG02970.hp1
HG02976.hp2
HG02559.hp2
HG02970.hp1
HG02976.hp2
 intron_variant MODIFIER c.-47-28199G>A
c.-47-28199G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498173
chr2:54498259 C
C
 G
G
 5 a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
others(2): Show 
a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0224
 5 HG00558.hp1
NA18946.hp1
NA18971.hp2
others(2): Show 
HG00558.hp1
NA18946.hp1
NA18971.hp2
NA18978.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-28113C>G
c.-47-28113C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498259
chr2:54498279 A
A
 G
G
 15 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0261
others(12): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0261
a0001c0004t0002g0161
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0025g0240
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0365
 15 HG02109.hp2
HG02280.hp2
HG02451.hp1
others(12): Show 
HG02109.hp2
HG02280.hp2
HG02451.hp1
HG02572.hp2
HG02809.hp1
HG02965.hp1
HG02965.hp2
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03516.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-28093A>G
c.-47-28093A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498279
chr2:54498307 T
T
 G
G
 2 a0001c0003t0003g0261
a0001c0005t0008g0056
a0001c0003t0003g0261
a0001c0005t0008g0056
 2 HG02572.hp2
HG02965.hp1
HG02572.hp2
HG02965.hp1
 intron_variant MODIFIER c.-47-28065T>G
c.-47-28065T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498307
chr2:54498465 C
C
 T
T
 3 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0008t0026g0364
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0008t0026g0364
 3 HG02257.hp2
HG02280.hp1
NA20300.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-27907C>T
c.-47-27907C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498465
chr2:54498466 A
A
 G
G
 13 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(10): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0029t0007g0290
a0009c0022t0051g0078
 13 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(10): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03688.hp1
HG06807.hp2
 intron_variant MODIFIER c.-47-27906A>G
c.-47-27906A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498466
chr2:54498476 C
C
 T
T
 2 a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0007g0110
a0001c0004t0007g0173
 2 HG01071.hp2
HG01081.hp2
HG01071.hp2
HG01081.hp2
 intron_variant MODIFIER c.-47-27896C>T
c.-47-27896C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498476
chr2:54498628 A
A
 G
G
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.-47-27744A>G
c.-47-27744A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498628
chr2:54498687 T
T
 C
C
 282 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(279): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 282 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(279): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-27685T>C
c.-47-27685T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498687
chr2:54498925 G
G
 A
A
 2 a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0098
a0001c0004t0004g0132
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.-47-27447G>A
c.-47-27447G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498925
chr2:54498976 G
G
 GA
GA
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-27396_-47-2739
others(5): Show 
c.-47-27396_-47-27395insA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54498976
chr2:54499150 T
T
 TGTTA
TGTTA
 281 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(278): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 281 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(278): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-27219_-47-2721
others(8): Show 
c.-47-27219_-47-27218insAGTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54499150
chr2:54499265 C
C
 T
T
 3 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 3 HG02145.hp2
HG02615.hp1
HG03139.hp1
HG02145.hp2
HG02615.hp1
HG03139.hp1
 intron_variant MODIFIER c.-47-27107C>T
c.-47-27107C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54499265
chr2:54499464 G
G
 C
C
 1 a0001c0003t0003g0177
a0001c0003t0003g0177
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.-47-26908G>C
c.-47-26908G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54499464
chr2:54499494 T
T
 G
G
 3 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0008t0026g0364
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0008t0026g0364
 3 HG02257.hp2
HG02280.hp1
NA20300.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-26878T>G
c.-47-26878T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54499494
chr2:54499518 G
G
 T
T
 1 a0001c0002t0001g0080
a0001c0002t0001g0080
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.-47-26854G>T
c.-47-26854G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54499518
chr2:54499770 T
T
 C
C
 5 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(2): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
 5 HG01884.hp2
HG02280.hp2
HG03225.hp1
others(2): Show 
HG01884.hp2
HG02280.hp2
HG03225.hp1
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-26602T>C
c.-47-26602T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54499770
chr2:54499773 C
C
 G
G
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-47-26599C>G
c.-47-26599C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54499773
chr2:54499961 C
C
 A
A
 13 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0091
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0018g0127
 13 HG00438.hp2
HG00609.hp1
NA18952.hp1
others(10): Show 
HG00438.hp2
HG00609.hp1
NA18952.hp1
NA18979.hp1
NA19001.hp2
NA19054.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.-47-26411C>A
c.-47-26411C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54499961
chr2:54500021 G
G
 A
A
 8 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(5): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
 8 HG02615.hp2
HG03041.hp2
HG03130.hp2
others(5): Show 
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-26351G>A
c.-47-26351G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500021
chr2:54500075 C
C
 G
G
 1 a0001c0013t0015g0255
a0001c0013t0015g0255
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.-47-26297C>G
c.-47-26297C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500075
chr2:54500086 T
T
 G
G
 4 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(1): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0330
 4 NA18983.hp1
NA18993.hp2
NA19074.hp2
others(1): Show 
NA18983.hp1
NA18993.hp2
NA19074.hp2
NA19082.hp1
 intron_variant MODIFIER c.-47-26286T>G
c.-47-26286T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500086
chr2:54500093 G
G
 A
A
 2 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0001t0019g0241
a0001c0001t0050g0242
 2 HG02280.hp2
NA21309.hp1
HG02280.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-26279G>A
c.-47-26279G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500093
chr2:54500281 G
G
 A
A
 1 a0001c0008t0005g0244
a0001c0008t0005g0244
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-47-26091G>A
c.-47-26091G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500281
chr2:54500478 T
T
 G
G
 4 a0001c0001t0005g0221
a0001c0016t0005g0099
a0002c0006t0003g0200
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0099
a0002c0006t0003g0200
a0009c0022t0051g0078
 4 HG03688.hp1
HG03942.hp2
HG04204.hp1
others(1): Show 
HG03688.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
 intron_variant MODIFIER c.-47-25894T>G
c.-47-25894T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500478
chr2:54500517 C
C
 T
T
 281 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(278): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 281 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(278): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-25855C>T
c.-47-25855C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500517
chr2:54500658 A
A
 T
T
 57 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
others(54): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0049g0076
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0025g0250
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0002c0006t0003g0141
a0003c0031t0004g0063
a0004c0032t0004g0329
 57 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(54): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03490.hp1
HG03540.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19054.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.-47-25714A>T
c.-47-25714A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500658
chr2:54500682 G
G
 A
A
 1 a0001c0004t0004g0170
a0001c0004t0004g0170
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.-47-25690G>A
c.-47-25690G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500682
chr2:54500716 T
T
 G
G
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.-47-25656T>G
c.-47-25656T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500716
chr2:54500730 A
A
 G
G
 282 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(279): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 282 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(279): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-25642A>G
c.-47-25642A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500730
chr2:54500829 T
T
 C
C
 292 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(289): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 292 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(289): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-25543T>C
c.-47-25543T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500829
chr2:54500844 G
G
 A
A
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-47-25528G>A
c.-47-25528G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500844
chr2:54500916 A
A
 C
C
 3 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0008t0026g0364
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0008t0026g0364
 3 HG02257.hp2
HG02280.hp1
NA20300.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-25456A>C
c.-47-25456A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500916
chr2:54500945 T
T
 G
G
 282 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(279): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 282 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(279): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-25427T>G
c.-47-25427T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54500945
chr2:54501078 A
A
 C
C
 12 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(9): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0029t0007g0290
 12 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(9): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG06807.hp2
 intron_variant MODIFIER c.-47-25294A>C
c.-47-25294A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54501078
chr2:54501139 G
G
 A
A
 168 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(165): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0009t0007g0272
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0033t0007g0248
a0002c0006t0003g0141
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0008c0030t0030g0174
a0010c0034t0001g0002
 168 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(165): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp2
NA19012.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-25233G>A
c.-47-25233G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54501139
chr2:54501150 C
C
 G
G
 19 a0001c0002t0001g0275
a0001c0003t0003g0261
a0001c0004t0002g0161
others(16): Show 
a0001c0002t0001g0275
a0001c0003t0003g0261
a0001c0004t0002g0161
a0001c0005t0008g0056
a0001c0005t0025g0240
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 19 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(16): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02572.hp2
HG02965.hp1
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG06807.hp2
 intron_variant MODIFIER c.-47-25222C>G
c.-47-25222C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54501150
chr2:54501306 C
C
 T
T
 1 a0001c0002t0001g0334
a0001c0002t0001g0334
 1 NA19076.hp2
NA19076.hp2
 intron_variant MODIFIER c.-47-25066C>T
c.-47-25066C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54501306
chr2:54501307 T
T
 C
C
 1 a0001c0002t0001g0334
a0001c0002t0001g0334
 1 NA19076.hp2
NA19076.hp2
 intron_variant MODIFIER c.-47-25065T>C
c.-47-25065T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54501307
chr2:54501573 G
G
 C
C
 1 a0001c0004t0004g0202
a0001c0004t0004g0202
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.-47-24799G>C
c.-47-24799G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54501573
chr2:54501722 G
G
 T
T
 3 a0001c0002t0001g0111
a0001c0002t0029g0339
a0001c0007t0001g0302
a0001c0002t0001g0111
a0001c0002t0029g0339
a0001c0007t0001g0302
 3 HG00639.hp2
HG01256.hp2
NA20752.hp2
HG00639.hp2
HG01256.hp2
NA20752.hp2
 intron_variant MODIFIER c.-47-24650G>T
c.-47-24650G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54501722
chr2:54501885 C
C
 T
T
 2 a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0253
a0001c0005t0011g0254
 2 HG02572.hp1
HG03209.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.-47-24487C>T
c.-47-24487C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54501885
chr2:54502015 T
T
 C
C
 1 a0002c0006t0003g0141
a0002c0006t0003g0141
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.-47-24357T>C
c.-47-24357T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54502015
chr2:54502098 A
A
 G
G
 3 a0001c0003t0009g0234
a0001c0003t0009g0236
a0001c0003t0033g0172
a0001c0003t0009g0234
a0001c0003t0009g0236
a0001c0003t0033g0172
 3 NA18940.hp1
NA19062.hp2
NA19086.hp2
NA18940.hp1
NA19062.hp2
NA19086.hp2
 intron_variant MODIFIER c.-47-24274A>G
c.-47-24274A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54502098
chr2:54502170 T
T
 C
C
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-47-24202T>C
c.-47-24202T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54502170
chr2:54502189 G
G
 C
C
 2 a0001c0001t0005g0106
a0001c0001t0005g0345
a0001c0001t0005g0106
a0001c0001t0005g0345
 2 HG01496.hp1
HG03927.hp2
HG01496.hp1
HG03927.hp2
 intron_variant MODIFIER c.-47-24183G>C
c.-47-24183G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54502189
chr2:54502219 CCAAAGGC
others(227): Show 
CCAAAGGCCTCACCCTTGCTCTCATCTGGAAGCTGATGGGAAGGTTTGTT
AGTCTTCTCAGGAGCCTGTCACAGGACCTCAGGAACGTAGCCTGTAGTGG
GCAGCTGGCATCAATTTAGTGCTGTGGGGATGGCAGGCTGTCAGAGTGGT
TGCACTTTACCTGCACGCCCCCCAACCCAGCCCTCTGTGAAGGGTTGGTT
TACATCAGGGATGGCTGCTCCTGACATAATTGTCT
 C
C
 1 a0001c0012t0016g0026
a0001c0012t0016g0026
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.-47-24152_-47-2391
others(4): Show 
c.-47-24152_-47-23919del
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54502219
chr2:54502692 G
G
 T
T
 21 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(18): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 21 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(18): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-23680G>T
c.-47-23680G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54502692
chr2:54502697 T
T
 G
G
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.-47-23675T>G
c.-47-23675T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54502697
chr2:54503069 G
G
 A
A
 1 a0001c0001t0005g0346
a0001c0001t0005g0346
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.-47-23303G>A
c.-47-23303G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503069
chr2:54503186 G
G
 A
A
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.-47-23186G>A
c.-47-23186G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503186
chr2:54503202 A
A
 G
G
 1 a0001c0003t0003g0251
a0001c0003t0003g0251
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-47-23170A>G
c.-47-23170A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503202
chr2:54503239 A
A
 G
G
 4 a0001c0003t0003g0261
a0001c0004t0002g0161
a0001c0005t0008g0056
others(1): Show 
a0001c0003t0003g0261
a0001c0004t0002g0161
a0001c0005t0008g0056
a0001c0005t0025g0240
 4 HG02572.hp2
HG02965.hp1
HG03195.hp1
others(1): Show 
HG02572.hp2
HG02965.hp1
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-47-23133A>G
c.-47-23133A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503239
chr2:54503321 A
A
 AC
AC
 3 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0008t0026g0364
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0008t0026g0364
 3 HG02257.hp2
HG02280.hp1
NA20300.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-23050dupC
c.-47-23050dupC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54503321
chr2:54503356 G
G
 A
A
 1 a0002c0006t0003g0016
a0002c0006t0003g0016
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.-47-23016G>A
c.-47-23016G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503356
chr2:54503669 G
G
 A
A
 1 a0001c0008t0005g0306
a0001c0008t0005g0306
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.-47-22703G>A
c.-47-22703G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503669
chr2:54503701 A
A
 C
C
 2 a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0253
a0001c0005t0011g0254
 2 HG02572.hp1
HG03209.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.-47-22671A>C
c.-47-22671A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503701
chr2:54503704 G
G
 C
C
 13 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(10): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 13 HG02145.hp2
HG02559.hp1
HG02572.hp1
others(10): Show 
HG02145.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-22668G>C
c.-47-22668G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503704
chr2:54503780 G
G
 A
A
 1 a0006c0027t0003g0075
a0006c0027t0003g0075
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-47-22592G>A
c.-47-22592G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503780
chr2:54503788 A
A
 G
G
 1 a0001c0002t0001g0077
a0001c0002t0001g0077
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.-47-22584A>G
c.-47-22584A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503788
chr2:54503883 G
G
 A
A
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.-47-22489G>A
c.-47-22489G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54503883
chr2:54504079 G
G
 A
A
 54 a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
others(51): Show 
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 54 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(51): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02486.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02818.hp2
HG02897.hp2
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-22293G>A
c.-47-22293G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504079
chr2:54504082 G
G
 A
A
 1 a0001c0001t0004g0001
a0001c0001t0004g0001
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.-47-22290G>A
c.-47-22290G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504082
chr2:54504094 T
T
 C
C
 3 a0001c0003t0003g0320
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0320
a0001c0003t0003g0357
a0001c0003t0003g0360
 3 HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01109.hp1
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.-47-22278T>C
c.-47-22278T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504094
chr2:54504105 G
G
 A
A
 4 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0009c0022t0051g0078
 4 HG03654.hp1
HG03688.hp1
HG03942.hp2
others(1): Show 
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-22267G>A
c.-47-22267G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504105
chr2:54504238 G
G
 A
A
 1 a0001c0002t0001g0077
a0001c0002t0001g0077
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.-47-22134G>A
c.-47-22134G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504238
chr2:54504289 T
T
 G
G
 1 a0001c0003t0003g0261
a0001c0003t0003g0261
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-47-22083T>G
c.-47-22083T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504289
chr2:54504307 A
A
 G
G
 1 a0001c0003t0003g0261
a0001c0003t0003g0261
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-47-22065A>G
c.-47-22065A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504307
chr2:54504342 G
G
 T
T
 1 a0001c0001t0004g0125
a0001c0001t0004g0125
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.-47-22030G>T
c.-47-22030G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504342
chr2:54504364 A
A
 G
G
 1 a0001c0001t0050g0242
a0001c0001t0050g0242
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-22008A>G
c.-47-22008A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504364
chr2:54504430 C
C
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.-47-21942C>T
c.-47-21942C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504430
chr2:54504437 A
A
 G
G
 2 a0001c0002t0001g0082
a0001c0002t0001g0121
a0001c0002t0001g0082
a0001c0002t0001g0121
 2 NA18989.hp2
NA19085.hp1
NA18989.hp2
NA19085.hp1
 intron_variant MODIFIER c.-47-21935A>G
c.-47-21935A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504437
chr2:54504497 G
G
 A
A
 9 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(6): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
a0008c0030t0030g0174
 9 HG02615.hp2
HG02717.hp2
HG03041.hp2
others(6): Show 
HG02615.hp2
HG02717.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-21875G>A
c.-47-21875G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504497
chr2:54504802 T
T
 C
C
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-47-21570T>C
c.-47-21570T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504802
chr2:54504939 G
G
 C
C
 51 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(48): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0003t0003g0261
a0001c0003t0003g0304
a0001c0004t0002g0161
a0001c0005t0008g0056
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 51 HG00735.hp1
HG00738.hp1
HG01106.hp2
others(48): Show 
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-21433G>C
c.-47-21433G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504939
chr2:54504953 T
T
 C
C
 5 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(2): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
 5 HG01884.hp2
HG02280.hp2
HG03225.hp1
others(2): Show 
HG01884.hp2
HG02280.hp2
HG03225.hp1
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-21419T>C
c.-47-21419T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504953
chr2:54504962 G
G
 A
A
 1 a0001c0003t0003g0257
a0001c0003t0003g0257
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.-47-21410G>A
c.-47-21410G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54504962
chr2:54505077 A
A
 G
G
 12 a0001c0005t0008g0176
a0001c0008t0005g0046
a0001c0008t0005g0243
others(9): Show 
a0001c0005t0008g0176
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 12 HG01346.hp2
HG02055.hp1
HG02451.hp1
others(9): Show 
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02809.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-21295A>G
c.-47-21295A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54505077
chr2:54505260 G
G
 C
C
 4 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0009c0022t0051g0078
 4 HG03654.hp1
HG03688.hp1
HG03942.hp2
others(1): Show 
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-21112G>C
c.-47-21112G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54505260
chr2:54505625 C
C
 T
T
 5 a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0016t0005g0064
others(2): Show 
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0016t0005g0064
a0001c0016t0005g0099
a0009c0022t0051g0078
 5 HG02970.hp1
HG03654.hp1
HG03688.hp1
others(2): Show 
HG02970.hp1
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-20747C>T
c.-47-20747C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54505625
chr2:54505763 A
A
 T
T
 13 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0092
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0211
a0001c0001t0018g0127
 13 HG00438.hp2
HG00609.hp1
NA18952.hp1
others(10): Show 
HG00438.hp2
HG00609.hp1
NA18952.hp1
NA18977.hp2
NA18979.hp1
NA19001.hp2
NA19054.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19088.hp1
 intron_variant MODIFIER c.-47-20609A>T
c.-47-20609A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54505763
chr2:54505777 G
G
 A
A
 5 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(2): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
 5 HG01884.hp2
HG02280.hp2
HG03225.hp1
others(2): Show 
HG01884.hp2
HG02280.hp2
HG03225.hp1
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-20595G>A
c.-47-20595G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54505777
chr2:54505852 C
C
 T
T
 4 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0009c0022t0051g0078
 4 HG03654.hp1
HG03688.hp1
HG03942.hp2
others(1): Show 
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-20520C>T
c.-47-20520C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54505852
chr2:54505988 G
G
 A
A
 1 a0001c0008t0005g0045
a0001c0008t0005g0045
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.-47-20384G>A
c.-47-20384G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54505988
chr2:54505998 C
C
 A
A
 4 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(1): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
 4 NA18951.hp2
NA18992.hp1
NA19012.hp2
others(1): Show 
NA18951.hp2
NA18992.hp1
NA19012.hp2
NA19084.hp2
 intron_variant MODIFIER c.-47-20374C>A
c.-47-20374C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54505998
chr2:54506079 G
G
 A
A
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-47-20293G>A
c.-47-20293G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506079
chr2:54506103 A
A
 G
G
 283 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(280): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0005g0322
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 283 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(280): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-20269A>G
c.-47-20269A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506103
chr2:54506123 C
C
 CTAAA
CTAAA
 108 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
others(105): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0061
a0001c0001t0004g0001
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0127
a0001c0001t0018g0303
a0001c0001t0020g0023
a0001c0001t0022g0118
a0001c0001t0039g0058
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0235
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0005t0043g0039
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0226
a0001c0020t0002g0034
a0001c0023t0005g0283
a0001c0025t0003g0352
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 108 HG00140.hp2
HG00280.hp1
HG00408.hp2
others(105): Show 
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00735.hp2
HG01167.hp2
HG01255.hp1
HG01346.hp2
HG01517.hp1
HG01884.hp1
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp2
HG02293.hp1
HG02300.hp2
HG02451.hp2
HG02622.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG04115.hp2
HG04228.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18946.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18956.hp1
NA18959.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18992.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19058.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-20212_-47-2020
others(8): Show 
c.-47-20212_-47-20209dupTAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506123
chr2:54506123 C
C
 CTAAATAA
others(1): Show 
CTAAATAAA
 6 a0001c0001t0002g0030
a0001c0001t0002g0207
a0001c0001t0003g0223
others(3): Show 
a0001c0001t0002g0030
a0001c0001t0002g0207
a0001c0001t0003g0223
a0001c0003t0003g0256
a0001c0003t0032g0321
a0001c0013t0015g0255
 6 HG01255.hp2
HG02273.hp1
HG02897.hp2
others(3): Show 
HG01255.hp2
HG02273.hp1
HG02897.hp2
HG03209.hp1
HG03831.hp1
NA19012.hp1
 intron_variant MODIFIER c.-47-20216_-47-2020
others(12): Show 
c.-47-20216_-47-20209dupTAAATAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506123
chr2:54506123 CTAAA
CTAAA
 C
C
 158 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(155): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0344
a0001c0001t0005g0353
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0029g0100
a0001c0001t0041g0247
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0009t0007g0272
a0001c0011t0023g0229
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
a0009c0022t0051g0078
a0010c0034t0001g0002
 158 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(155): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-20212_-47-2020
others(8): Show 
c.-47-20212_-47-20209delTAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506123
chr2:54506123 CTAAATAA
others(1): Show 
CTAAATAAA
 C
C
 6 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0274
others(3): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0274
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
 6 HG01884.hp2
HG02280.hp2
HG02300.hp1
others(3): Show 
HG01884.hp2
HG02280.hp2
HG02300.hp1
HG03225.hp1
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-20216_-47-2020
others(12): Show 
c.-47-20216_-47-20209delTAAATAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506123
chr2:54506123 CTAAATAA
others(5): Show 
CTAAATAAATAAA
 C
C
 14 a0001c0002t0001g0275
a0001c0007t0013g0108
a0001c0007t0013g0137
others(11): Show 
a0001c0002t0001g0275
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 14 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(11): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03139.hp2
HG03195.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-47-20220_-47-2020
others(16): Show 
c.-47-20220_-47-20209delTAAATAAATAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506123
chr2:54506123 CTAAATAA
others(17): Show 
CTAAATAAATAAATAAATAAATAAA
 C
C
 1 a0001c0004t0007g0110
a0001c0004t0007g0110
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.-47-20232_-47-2020
others(28): Show 
c.-47-20232_-47-20209delTAAATAAATAAATAAATAAATAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506123
chr2:54506230 C
C
 T
T
 6 a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
others(3): Show 
a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0224
a0001c0001t0002g0349
 6 HG00558.hp1
NA18946.hp1
NA18971.hp2
others(3): Show 
HG00558.hp1
NA18946.hp1
NA18971.hp2
NA18978.hp1
NA19058.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-20142C>T
c.-47-20142C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506230
chr2:54506254 T
T
 A
A
 275 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(272): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 275 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(272): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-20118T>A
c.-47-20118T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506254
chr2:54506296 C
C
 T
T
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.-47-20076C>T
c.-47-20076C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506296
chr2:54506399 C
C
 T
T
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.-47-19973C>T
c.-47-19973C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506399
chr2:54506623 A
A
 AT
AT
 98 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(95): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0091
a0001c0001t0010g0238
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0009t0007g0272
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 98 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(95): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.-47-19747dupT
c.-47-19747dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506623
chr2:54506634 G
G
 T
T
 19 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0275
others(16): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0003t0003g0304
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 19 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(16): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02280.hp2
HG02559.hp2
HG02976.hp2
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-19738G>T
c.-47-19738G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506634
chr2:54506687 A
A
 G
G
 4 a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
others(1): Show 
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
 4 HG00408.hp1
NA18956.hp2
NA19056.hp1
others(1): Show 
HG00408.hp1
NA18956.hp2
NA19056.hp1
NA19081.hp1
 intron_variant MODIFIER c.-47-19685A>G
c.-47-19685A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506687
chr2:54506894 C
C
 CTCTTTTT
others(1): Show 
CTCTTTTTT
 10 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(7): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0002t0001g0083
a0001c0002t0001g0133
a0001c0002t0006g0271
a0001c0002t0006g0299
a0001c0002t0006g0323
a0001c0003t0003g0251
a0001c0007t0001g0222
 10 HG01943.hp2
HG02683.hp1
HG03041.hp1
others(7): Show 
HG01943.hp2
HG02683.hp1
HG03041.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp1
NA18963.hp2
NA18971.hp1
NA18986.hp2
NA19056.hp1
 intron_variant MODIFIER c.-47-19477_-47-1947
others(12): Show 
c.-47-19477_-47-19476insCTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506894
chr2:54506894 C
C
 CTCTTTTT
others(2): Show 
CTCTTTTTTT
 109 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(106): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0338
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0018g0180
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0007g0272
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 109 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(106): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-47-19477_-47-1947
others(13): Show 
c.-47-19477_-47-19476insCTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506894
chr2:54506894 C
C
 CTCTTTTT
others(3): Show 
CTCTTTTTTTT
 20 a0001c0001t0002g0293
a0001c0001t0003g0059
a0001c0002t0001g0117
others(17): Show 
a0001c0001t0002g0293
a0001c0001t0003g0059
a0001c0002t0001g0117
a0001c0002t0005g0122
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0031g0187
a0001c0007t0001g0119
a0001c0007t0013g0043
a0001c0007t0013g0044
 20 HG01167.hp2
HG02145.hp2
HG02486.hp2
others(17): Show 
HG01167.hp2
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03017.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18612.hp1
NA18954.hp1
NA18956.hp2
NA19240.hp2
 intron_variant MODIFIER c.-47-19477_-47-1947
others(14): Show 
c.-47-19477_-47-19476insCTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506894
chr2:54506894 C
C
 CTCTTTTT
others(4): Show 
CTCTTTTTTTTT
 3 a0001c0003t0003g0261
a0001c0005t0008g0056
a0001c0008t0005g0045
a0001c0003t0003g0261
a0001c0005t0008g0056
a0001c0008t0005g0045
 3 HG02572.hp2
HG02615.hp1
HG02965.hp1
HG02572.hp2
HG02615.hp1
HG02965.hp1
 intron_variant MODIFIER c.-47-19477_-47-1947
others(15): Show 
c.-47-19477_-47-19476insCTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506894
chr2:54506894 C
C
 CTTTTTT
CTTTTTT
 10 a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0009g0227
others(7): Show 
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0009g0227
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0036g0361
a0001c0004t0004g0096
a0001c0005t0003g0182
a0001c0009t0007g0280
a0002c0006t0003g0184
 10 HG01106.hp2
HG01168.hp1
HG02015.hp2
others(7): Show 
HG01106.hp2
HG01168.hp1
HG02015.hp2
HG02698.hp2
HG02897.hp2
HG03041.hp2
NA18941.hp2
NA18974.hp1
NA19056.hp2
NA19062.hp2
 intron_variant MODIFIER c.-47-19469_-47-1946
others(10): Show 
c.-47-19469_-47-19464dupTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506894
chr2:54506894 C
C
 CTTTTTTT
CTTTTTTT
 136 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
others(133): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0233
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 136 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(133): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18979.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19088.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-19470_-47-1946
others(11): Show 
c.-47-19470_-47-19464dupTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506894
chr2:54506894 CTT
CTT
 C
C
 74 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
others(71): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0095
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0353
a0001c0001t0005g0354
a0001c0001t0007g0019
a0001c0001t0007g0347
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0020t0002g0034
a0001c0023t0005g0283
a0002c0006t0003g0141
 74 HG00099.hp2
HG00408.hp2
HG00423.hp2
others(71): Show 
HG00099.hp2
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00735.hp2
HG01123.hp2
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02071.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG02622.hp1
HG02717.hp1
HG02922.hp1
HG03017.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04228.hp2
NA18612.hp2
NA18941.hp1
NA18945.hp1
NA18946.hp1
NA18952.hp2
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18990.hp1
NA18994.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19010.hp1
NA19012.hp1
NA19058.hp1
NA19066.hp1
NA19068.hp2
NA19074.hp1
NA19076.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-47-19465_-47-1946
others(6): Show 
c.-47-19465_-47-19464delTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54506894
chr2:54506960 A
A
 C
C
 1 a0001c0023t0005g0283
a0001c0023t0005g0283
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.-47-19412A>C
c.-47-19412A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54506960
chr2:54507001 C
C
 T
T
 235 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(232): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0261
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 235 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(232): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-19371C>T
c.-47-19371C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507001
chr2:54507040 T
T
 C
C
 1 a0001c0005t0008g0368
a0001c0005t0008g0368
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.-47-19332T>C
c.-47-19332T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507040
chr2:54507112 G
G
 A
A
 120 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(117): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0018g0180
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 120 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(117): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-47-19260G>A
c.-47-19260G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507112
chr2:54507347 G
G
 A
A
 8 a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
others(5): Show 
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0033g0172
a0007c0024t0009g0232
 8 NA18940.hp1
NA18941.hp2
NA18954.hp2
others(5): Show 
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
 intron_variant MODIFIER c.-47-19025G>A
c.-47-19025G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507347
chr2:54507417 A
A
 G
G
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.-47-18955A>G
c.-47-18955A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507417
chr2:54507482 T
T
 G
G
 3 a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
 3 HG01884.hp1
HG02630.hp2
HG02897.hp2
HG01884.hp1
HG02630.hp2
HG02897.hp2
 intron_variant MODIFIER c.-47-18890T>G
c.-47-18890T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507482
chr2:54507602 G
G
 A
A
 116 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(113): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0018g0180
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 116 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(113): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-47-18770G>A
c.-47-18770G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507602
chr2:54507604 G
G
 A
A
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.-47-18768G>A
c.-47-18768G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507604
chr2:54507802 C
C
 CT
CT
 166 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(163): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0004t0002g0161
a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0001c0029t0007g0290
a0003c0031t0004g0063
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 166 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(163): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18955.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-18556dupT
c.-47-18556dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54507802
chr2:54507869 G
G
 A
A
 96 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(93): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0091
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 96 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(93): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.-47-18503G>A
c.-47-18503G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54507869
chr2:54508095 T
T
 C
C
 1 a0004c0032t0004g0329
a0004c0032t0004g0329
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.-47-18277T>C
c.-47-18277T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508095
chr2:54508166 C
C
 T
T
 1 a0001c0004t0004g0194
a0001c0004t0004g0194
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.-47-18206C>T
c.-47-18206C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508166
chr2:54508208 G
G
 A
A
 3 a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
 3 HG01884.hp2
HG03225.hp1
NA19030.hp1
HG01884.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.-47-18164G>A
c.-47-18164G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508208
chr2:54508339 A
A
 T
T
 1 a0001c0002t0047g0279
a0001c0002t0047g0279
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-47-18033A>T
c.-47-18033A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508339
chr2:54508356 T
T
 G
G
 1 a0001c0001t0002g0090
a0001c0001t0002g0090
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.-47-18016T>G
c.-47-18016T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508356
chr2:54508429 G
G
 T
T
 1 a0001c0009t0045g0298
a0001c0009t0045g0298
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.-47-17943G>T
c.-47-17943G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508429
chr2:54508445 G
G
 T
T
 2 a0001c0002t0001g0082
a0001c0002t0001g0121
a0001c0002t0001g0082
a0001c0002t0001g0121
 2 NA18989.hp2
NA19085.hp1
NA18989.hp2
NA19085.hp1
 intron_variant MODIFIER c.-47-17927G>T
c.-47-17927G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508445
chr2:54508474 G
G
 A
A
 22 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(19): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 22 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(19): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-17898G>A
c.-47-17898G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508474
chr2:54508500 A
A
 G
G
 151 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(148): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0261
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0218
a0001c0005t0008g0056
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0029t0007g0290
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 151 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(148): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-17872A>G
c.-47-17872A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508500
chr2:54508518 TGGGCTAG
others(15): Show 
TGGGCTAGCGGGTTCTAAGAGGC
 T
T
 16 a0001c0002t0006g0154
a0001c0005t0008g0041
a0001c0005t0008g0048
others(13): Show 
a0001c0002t0006g0154
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 16 HG02145.hp2
HG02273.hp2
HG02486.hp2
others(13): Show 
HG02145.hp2
HG02273.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-17843_-47-1782
others(26): Show 
c.-47-17843_-47-17822delGTTCTAAGAGGCGGGCTAGCGG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54508518
chr2:54508534 A
A
 C
C
 4 a0001c0001t0004g0070
a0001c0004t0004g0131
a0001c0004t0004g0166
others(1): Show 
a0001c0001t0004g0070
a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0170
 4 HG00323.hp1
HG00741.hp2
HG01496.hp2
others(1): Show 
HG00323.hp1
HG00741.hp2
HG01496.hp2
HG02602.hp2
 intron_variant MODIFIER c.-47-17838A>C
c.-47-17838A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508534
chr2:54508555 C
C
 T
T
 292 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(289): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 292 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(289): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-17817C>T
c.-47-17817C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508555
chr2:54508563 A
A
 G
G
 152 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(149): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0261
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0218
a0001c0005t0008g0056
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0029t0007g0290
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 152 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(149): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-17809A>G
c.-47-17809A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508563
chr2:54508742 C
C
 A
A
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-47-17630C>A
c.-47-17630C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508742
chr2:54508752 T
T
 A
A
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-17620T>A
c.-47-17620T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508752
chr2:54508962 G
G
 A
A
 4 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0009c0022t0051g0078
 4 HG03654.hp1
HG03688.hp1
HG03942.hp2
others(1): Show 
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-17410G>A
c.-47-17410G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508962
chr2:54508999 A
A
 C
C
 1 a0001c0001t0004g0129
a0001c0001t0004g0129
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.-47-17373A>C
c.-47-17373A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54508999
chr2:54509245 A
A
 G
G
 56 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(53): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 56 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-17127A>G
c.-47-17127A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54509245
chr2:54509291 G
G
 C
C
 1 a0001c0001t0005g0353
a0001c0001t0005g0353
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.-47-17081G>C
c.-47-17081G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54509291
chr2:54509344 G
G
 C
C
 2 a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0098
a0001c0004t0004g0132
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.-47-17028G>C
c.-47-17028G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54509344
chr2:54509487 G
G
 A
A
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.-47-16885G>A
c.-47-16885G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54509487
chr2:54509519 C
C
 T
T
 1 a0001c0001t0004g0129
a0001c0001t0004g0129
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.-47-16853C>T
c.-47-16853C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54509519
chr2:54509956 CT
CT
 C
C
 290 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(287): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 290 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(287): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-16399delT
c.-47-16399delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54509956
chr2:54509960 T
T
 C
C
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-16412T>C
c.-47-16412T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54509960
chr2:54509961 T
T
 C
C
 26 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0275
others(23): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0003t0003g0261
a0001c0003t0003g0304
a0001c0004t0002g0161
a0001c0005t0008g0056
a0001c0005t0025g0240
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 26 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(23): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG06807.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-16411T>C
c.-47-16411T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54509961
chr2:54510085 A
A
 G
G
 295 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(292): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 295 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(292): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-16287A>G
c.-47-16287A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54510085
chr2:54510112 C
C
 G
G
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-16260C>G
c.-47-16260C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54510112
chr2:54510494 A
A
 G
G
 2 a0001c0001t0002g0007
a0001c0001t0002g0128
a0001c0001t0002g0007
a0001c0001t0002g0128
 2 NA18612.hp2
NA18956.hp1
NA18612.hp2
NA18956.hp1
 intron_variant MODIFIER c.-47-15878A>G
c.-47-15878A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54510494
chr2:54510574 C
C
 G
G
 1 a0001c0001t0004g0129
a0001c0001t0004g0129
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.-47-15798C>G
c.-47-15798C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54510574
chr2:54510592 T
T
 C
C
 295 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(292): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 295 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(292): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-15780T>C
c.-47-15780T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54510592
chr2:54510711 G
G
 C
C
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.-47-15661G>C
c.-47-15661G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54510711
chr2:54510940 A
A
 G
G
 2 a0001c0005t0008g0176
a0001c0008t0005g0260
a0001c0005t0008g0176
a0001c0008t0005g0260
 2 HG02451.hp1
HG03453.hp1
HG02451.hp1
HG03453.hp1
 intron_variant MODIFIER c.-47-15432A>G
c.-47-15432A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54510940
chr2:54511031 T
T
 C
C
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-47-15341T>C
c.-47-15341T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54511031
chr2:54511072 C
C
 A
A
 13 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(10): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 13 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(10): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-47-15300C>A
c.-47-15300C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54511072
chr2:54511096 A
A
 C
C
 56 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(53): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 56 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-15276A>C
c.-47-15276A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54511096
chr2:54511163 G
G
 A
A
 1 a0001c0001t0005g0342
a0001c0001t0005g0342
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.-47-15209G>A
c.-47-15209G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54511163
chr2:54511255 C
C
 G
G
 143 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(140): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0031g0187
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0029t0007g0290
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 143 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(140): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.-47-15117C>G
c.-47-15117C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54511255
chr2:54511465 G
G
 T
T
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-14907G>T
c.-47-14907G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54511465
chr2:54512129 A
A
 T
T
 295 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(292): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 295 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(292): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-14243A>T
c.-47-14243A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54512129
chr2:54512159 T
T
 A
A
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.-47-14213T>A
c.-47-14213T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54512159
chr2:54512183 G
G
 A
A
 1 a0001c0004t0004g0201
a0001c0004t0004g0201
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.-47-14189G>A
c.-47-14189G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54512183
chr2:54512320 A
A
 G
G
 1 a0002c0006t0003g0151
a0002c0006t0003g0151
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.-47-14052A>G
c.-47-14052A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54512320
chr2:54512636 C
C
 T
T
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.-47-13736C>T
c.-47-13736C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54512636
chr2:54512764 A
A
 G
G
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.-47-13608A>G
c.-47-13608A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54512764
chr2:54512960 G
G
 A
A
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-13412G>A
c.-47-13412G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54512960
chr2:54513302 T
T
 G
G
 26 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0275
others(23): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0003t0003g0261
a0001c0003t0003g0304
a0001c0004t0002g0161
a0001c0005t0008g0056
a0001c0005t0025g0240
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 26 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(23): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02809.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG06807.hp2
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-13070T>G
c.-47-13070T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513302
chr2:54513309 T
T
 C
C
 295 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(292): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 295 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(292): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-13063T>C
c.-47-13063T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513309
chr2:54513337 C
C
 A
A
 1 a0001c0002t0001g0333
a0001c0002t0001g0333
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.-47-13035C>A
c.-47-13035C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513337
chr2:54513442 T
T
 C
C
 1 a0001c0001t0029g0100
a0001c0001t0029g0100
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.-47-12930T>C
c.-47-12930T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513442
chr2:54513445 C
C
 T
T
 99 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(96): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0091
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 99 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(96): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.-47-12927C>T
c.-47-12927C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513445
chr2:54513495 A
A
 G
G
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-12877A>G
c.-47-12877A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513495
chr2:54513580 T
T
 C
C
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-12792T>C
c.-47-12792T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513580
chr2:54513623 G
G
 T
T
 15 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(12): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 15 HG02145.hp2
HG02486.hp2
HG02559.hp1
others(12): Show 
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-12749G>T
c.-47-12749G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513623
chr2:54513799 T
T
 C
C
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-12573T>C
c.-47-12573T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513799
chr2:54513883 C
C
 A
A
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-12489C>A
c.-47-12489C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513883
chr2:54513993 T
T
 G
G
 7 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(4): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 7 HG01884.hp2
HG02280.hp2
HG02809.hp2
others(4): Show 
HG01884.hp2
HG02280.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-12379T>G
c.-47-12379T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54513993
chr2:54514188 T
T
 C
C
 99 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(96): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0091
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 99 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(96): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp2
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.-47-12184T>C
c.-47-12184T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54514188
chr2:54514675 A
A
 G
G
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-11697A>G
c.-47-11697A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54514675
chr2:54514792 C
C
 T
T
 1 a0001c0029t0007g0290
a0001c0029t0007g0290
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.-47-11580C>T
c.-47-11580C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54514792
chr2:54514797 T
T
 G
G
 4 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0009c0022t0051g0078
 4 HG03654.hp1
HG03688.hp1
HG03942.hp2
others(1): Show 
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-11575T>G
c.-47-11575T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54514797
chr2:54514945 A
A
 G
G
 4 a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
others(1): Show 
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 4 NA18945.hp2
NA18957.hp1
NA18993.hp1
others(1): Show 
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA19000.hp2
 intron_variant MODIFIER c.-47-11427A>G
c.-47-11427A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54514945
chr2:54515015 C
C
 T
T
 12 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0092
others(9): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0018g0127
 12 HG00438.hp2
HG00609.hp1
NA18952.hp1
others(9): Show 
HG00438.hp2
HG00609.hp1
NA18952.hp1
NA18979.hp1
NA19001.hp2
NA19054.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19088.hp1
 intron_variant MODIFIER c.-47-11357C>T
c.-47-11357C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515015
chr2:54515210 C
C
 T
T
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-11162C>T
c.-47-11162C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515210
chr2:54515227 G
G
 A
A
 5 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(2): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0005t0008g0368
 5 HG01167.hp2
HG01255.hp2
HG02109.hp2
others(2): Show 
HG01167.hp2
HG01255.hp2
HG02109.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.-47-11145G>A
c.-47-11145G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515227
chr2:54515415 G
G
 A
A
 1 a0004c0032t0004g0329
a0004c0032t0004g0329
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.-47-10957G>A
c.-47-10957G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515415
chr2:54515656 A
A
 G
G
 294 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(291): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0005g0353
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 294 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(291): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-10716A>G
c.-47-10716A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515656
chr2:54515737 G
G
 A
A
 1 a0001c0002t0001g0310
a0001c0002t0001g0310
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.-47-10635G>A
c.-47-10635G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515737
chr2:54515850 G
G
 A
A
 1 a0002c0006t0003g0141
a0002c0006t0003g0141
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.-47-10522G>A
c.-47-10522G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515850
chr2:54515886 T
T
 C
C
 56 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(53): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 56 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-10486T>C
c.-47-10486T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515886
chr2:54515938 T
T
 G
G
 1 a0001c0005t0011g0038
a0001c0005t0011g0038
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-47-10434T>G
c.-47-10434T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54515938
chr2:54516020 G
G
 T
T
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-47-10352G>T
c.-47-10352G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516020
chr2:54516131 G
G
 A
A
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-47-10241G>A
c.-47-10241G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516131
chr2:54516192 C
C
 T
T
 1 a0001c0001t0005g0354
a0001c0001t0005g0354
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.-47-10180C>T
c.-47-10180C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516192
chr2:54516241 T
T
 G
G
 1 a0001c0014t0037g0011
a0001c0014t0037g0011
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.-47-10131T>G
c.-47-10131T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516241
chr2:54516323 G
G
 A
A
 68 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
others(65): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0004g0001
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0007g0019
a0001c0001t0018g0127
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0040g0300
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0020t0002g0034
 68 HG00408.hp2
HG00423.hp2
HG00438.hp2
others(65): Show 
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00735.hp2
HG01255.hp1
HG01346.hp1
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02040.hp2
HG02071.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG03942.hp1
HG04184.hp2
HG04228.hp2
NA18941.hp1
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19010.hp1
NA19012.hp1
NA19054.hp1
NA19058.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA20752.hp1
 intron_variant MODIFIER c.-47-10049G>A
c.-47-10049G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516323
chr2:54516628 T
T
 C
C
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.-47-9744T>C
c.-47-9744T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516628
chr2:54516668 T
T
 C
C
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.-47-9704T>C
c.-47-9704T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516668
chr2:54516709 T
T
 A
A
 13 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(10): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 13 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(10): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-47-9663T>A
c.-47-9663T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516709
chr2:54516956 A
A
 G
G
 265 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(262): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 265 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(262): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-9416A>G
c.-47-9416A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516956
chr2:54516974 T
T
 C
C
 267 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
others(264): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 267 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(264): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-9398T>C
c.-47-9398T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54516974
chr2:54517003 G
G
 A
A
 277 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(274): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 277 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(274): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-9369G>A
c.-47-9369G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517003
chr2:54517005 A
A
 G
G
 2 a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0005t0025g0250
a0001c0005t0043g0039
 2 HG02630.hp1
HG02886.hp1
HG02630.hp1
HG02886.hp1
 intron_variant MODIFIER c.-47-9367A>G
c.-47-9367A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517005
chr2:54517034 T
T
 C
C
 3 a0001c0001t0018g0303
a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0001t0018g0303
a0001c0004t0004g0098
a0001c0004t0004g0132
 3 HG02055.hp2
HG02895.hp1
HG02897.hp1
HG02055.hp2
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.-47-9338T>C
c.-47-9338T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517034
chr2:54517074 GAGTTTGA
others(370): Show 
GAGTTTGAGTATTTCTTATCCCACTTAAGGTCTGAGTTGATGTTAATGCT
GGAGGGGGATGGATAGTGAGGCATGTCCATCCTCCCCTTTTCCATCATGG
CCTGAAAGAGATTTTCAGGCAACTCCGGGATGCCCTTGGCCAAGAGGGCC
CATTCAGATGGTTGGGGGCCTTAGAATTTTATTTTTAGTTTACAGAAGGT
TTGAAATAAGGGGATAGAAAAATACATACCAGGCAAATATTACTGTCAAT
CAAAATAGAGTTCATATGTTAATAGAGATACAACAATATTTCATAATATT
AACAGCTCATCTGGAAGATAAAATAATTATGATCTTGTAACATACTCAGG
GAATGAGAAAGAAAATCTGATAATCATA
 G
G
 2 a0001c0003t0003g0261
a0001c0005t0008g0056
a0001c0003t0003g0261
a0001c0005t0008g0056
 2 HG02572.hp2
HG02965.hp1
HG02572.hp2
HG02965.hp1
 intron_variant MODIFIER c.-47-9297_-47-8921d
others(2): Show 
c.-47-9297_-47-8921del
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517074
chr2:54517129 GGGAT
GGGAT
 G
G
 262 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(259): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 262 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(259): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-9238_-47-9235d
others(6): Show 
c.-47-9238_-47-9235delGGAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54517129
chr2:54517217 G
G
 T
T
 2 a0001c0002t0006g0276
a0001c0002t0006g0284
a0001c0002t0006g0276
a0001c0002t0006g0284
 2 HG02071.hp1
HG02155.hp1
HG02071.hp1
HG02155.hp1
 intron_variant MODIFIER c.-47-9155G>T
c.-47-9155G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517217
chr2:54517350 G
G
 GATACAAC
others(24): Show 
GATACAACAATATTTCATAATATTAACAGCTC
 2 a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0027g0053
a0001c0003t0027g0054
 2 NA18906.hp2
NA19240.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.-47-9019_-47-8989d
others(33): Show 
c.-47-9019_-47-8989dupACAACAATATTTCATAATATTAACAGCT
CAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54517350
chr2:54517452 G
G
 T
T
 2 a0001c0003t0003g0261
a0001c0005t0008g0056
a0001c0003t0003g0261
a0001c0005t0008g0056
 2 HG02572.hp2
HG02965.hp1
HG02572.hp2
HG02965.hp1
 intron_variant MODIFIER c.-47-8920G>T
c.-47-8920G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517452
chr2:54517659 C
C
 T
T
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-8713C>T
c.-47-8713C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517659
chr2:54517677 G
G
 A
A
 57 a0001c0001t0002g0208
a0001c0001t0007g0196
a0001c0001t0007g0270
others(54): Show 
a0001c0001t0002g0208
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 57 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(54): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18962.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-8695G>A
c.-47-8695G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517677
chr2:54517911 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.-47-8461T>C
c.-47-8461T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517911
chr2:54517912 G
G
 A
A
 1 a0001c0033t0007g0248
a0001c0033t0007g0248
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.-47-8460G>A
c.-47-8460G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517912
chr2:54517946 GT
GT
 G
G
 261 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(258): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 261 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(258): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-8411delT
c.-47-8411delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54517946
chr2:54517973 A
A
 G
G
 89 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
others(86): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0004g0001
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0019
a0001c0001t0018g0127
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0020t0002g0034
a0001c0029t0007g0290
a0002c0006t0003g0141
 89 HG00408.hp2
HG00423.hp2
HG00438.hp2
others(86): Show 
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00735.hp1
HG00735.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02040.hp2
HG02071.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG02559.hp2
HG02717.hp1
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03491.hp1
HG03492.hp2
HG03942.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18612.hp2
NA18941.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19010.hp1
NA19012.hp1
NA19054.hp1
NA19055.hp2
NA19058.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA20752.hp1
 intron_variant MODIFIER c.-47-8399A>G
c.-47-8399A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54517973
chr2:54518167 C
C
 T
T
 1 a0001c0001t0002g0293
a0001c0001t0002g0293
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.-47-8205C>T
c.-47-8205C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54518167
chr2:54518337 G
G
 C
C
 1 a0001c0001t0002g0090
a0001c0001t0002g0090
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.-47-8035G>C
c.-47-8035G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54518337
chr2:54518454 T
T
 TA
TA
 63 a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0007g0196
others(60): Show 
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0001g0111
a0001c0002t0001g0117
a0001c0002t0001g0204
a0001c0002t0004g0101
a0001c0002t0006g0271
a0001c0002t0029g0339
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 63 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp2
HG00741.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.-47-7903dupA
c.-47-7903dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54518454
chr2:54518454 T
T
 TAA
TAA
 191 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(188): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0320
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 191 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(188): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-7904_-47-7903d
others(4): Show 
c.-47-7904_-47-7903dupAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54518454
chr2:54518454 T
T
 TAAA
TAAA
 36 a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
others(33): Show 
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0002t0001g0086
a0001c0002t0001g0275
a0001c0003t0003g0261
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0031g0187
a0001c0007t0001g0192
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 36 HG00735.hp1
HG00738.hp1
HG01106.hp2
others(33): Show 
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG02970.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA18978.hp2
NA19081.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.-47-7905_-47-7903d
others(5): Show 
c.-47-7905_-47-7903dupAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54518454
chr2:54518602 A
A
 T
T
 8 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(5): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
 8 HG02615.hp2
HG03041.hp2
HG03130.hp2
others(5): Show 
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-7770A>T
c.-47-7770A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54518602
chr2:54518642 A
A
 T
T
 3 a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
 3 HG03579.hp2
NA19043.hp2
NA20300.hp2
HG03579.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.-47-7730A>T
c.-47-7730A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54518642
chr2:54518862 A
A
 C
C
 5 a0001c0004t0004g0069
a0001c0004t0004g0072
a0001c0004t0004g0096
others(2): Show 
a0001c0004t0004g0069
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0266
a0001c0004t0004g0317
 5 HG01168.hp1
HG01169.hp1
HG01515.hp2
others(2): Show 
HG01168.hp1
HG01169.hp1
HG01515.hp2
HG01517.hp2
HG04184.hp1
 intron_variant MODIFIER c.-47-7510A>C
c.-47-7510A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54518862
chr2:54518952 A
A
 T
T
 1 a0001c0004t0004g0071
a0001c0004t0004g0071
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.-47-7420A>T
c.-47-7420A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54518952
chr2:54519030 TC
TC
 T
T
 56 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(53): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 56 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-7340delC
c.-47-7340delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54519030
chr2:54519153 C
C
 G
G
 279 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(276): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 279 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(276): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-7219C>G
c.-47-7219C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519153
chr2:54519229 G
G
 T
T
 279 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(276): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 279 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(276): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-7143G>T
c.-47-7143G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519229
chr2:54519367 C
C
 T
T
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.-47-7005C>T
c.-47-7005C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519367
chr2:54519443 A
A
 C
C
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-47-6929A>C
c.-47-6929A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519443
chr2:54519490 A
A
 C
C
 1 a0001c0007t0001g0119
a0001c0007t0001g0119
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.-47-6882A>C
c.-47-6882A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519490
chr2:54519572 T
T
 C
C
 196 a0001c0001t0002g0094
a0001c0001t0003g0059
a0001c0001t0003g0060
others(193): Show 
a0001c0001t0002g0094
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
 196 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(193): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18979.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19088.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-6800T>C
c.-47-6800T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519572
chr2:54519609 C
C
 T
T
 5 a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
others(2): Show 
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 5 HG01884.hp2
HG02809.hp2
HG02895.hp2
others(2): Show 
HG01884.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.-47-6763C>T
c.-47-6763C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519609
chr2:54519611 C
C
 T
T
 1 a0001c0004t0007g0110
a0001c0004t0007g0110
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.-47-6761C>T
c.-47-6761C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519611
chr2:54519636 A
A
 G
G
 20 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(17): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 20 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(17): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-6736A>G
c.-47-6736A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519636
chr2:54519674 T
T
 A
A
 196 a0001c0001t0002g0094
a0001c0001t0003g0059
a0001c0001t0003g0060
others(193): Show 
a0001c0001t0002g0094
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
 196 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(193): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18979.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19088.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-6698T>A
c.-47-6698T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519674
chr2:54519750 G
G
 C
C
 20 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(17): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 20 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(17): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-6622G>C
c.-47-6622G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519750
chr2:54519769 A
A
 G
G
 1 a0001c0003t0003g0036
a0001c0003t0003g0036
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.-47-6603A>G
c.-47-6603A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519769
chr2:54519866 C
C
 T
T
 15 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(12): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 15 HG02145.hp2
HG02486.hp2
HG02559.hp1
others(12): Show 
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-6506C>T
c.-47-6506C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54519866
chr2:54520034 A
A
 G
G
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-47-6338A>G
c.-47-6338A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54520034
chr2:54520283 C
C
 G
G
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-6089C>G
c.-47-6089C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54520283
chr2:54520334 C
C
 G
G
 1 a0001c0001t0019g0183
a0001c0001t0019g0183
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.-47-6038C>G
c.-47-6038C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54520334
chr2:54520429 G
G
 A
A
 4 a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
others(1): Show 
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 4 HG01346.hp2
HG03130.hp1
HG03209.hp1
others(1): Show 
HG01346.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-47-5943G>A
c.-47-5943G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54520429
chr2:54520808 G
G
 A
A
 1 a0001c0002t0048g0025
a0001c0002t0048g0025
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.-47-5564G>A
c.-47-5564G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54520808
chr2:54520838 G
G
 A
A
 1 a0001c0002t0001g0274
a0001c0002t0001g0274
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.-47-5534G>A
c.-47-5534G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54520838
chr2:54521048 G
G
 A
A
 1 a0001c0008t0005g0243
a0001c0008t0005g0243
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-47-5324G>A
c.-47-5324G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521048
chr2:54521213 A
A
 G
G
 1 a0001c0002t0006g0271
a0001c0002t0006g0271
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.-47-5159A>G
c.-47-5159A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521213
chr2:54521218 A
A
 G
G
 41 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(38): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 41 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(38): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-5154A>G
c.-47-5154A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521218
chr2:54521242 G
G
 A
A
 19 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(16): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 19 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(16): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-5130G>A
c.-47-5130G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521242
chr2:54521304 G
G
 C
C
 1 a0001c0003t0003g0261
a0001c0003t0003g0261
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-47-5068G>C
c.-47-5068G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521304
chr2:54521364 A
A
 G
G
 20 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(17): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 20 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(17): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-5008A>G
c.-47-5008A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521364
chr2:54521534 A
A
 G
G
 3 a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
 3 NA18968.hp2
NA18971.hp1
NA19065.hp1
NA18968.hp2
NA18971.hp1
NA19065.hp1
 intron_variant MODIFIER c.-47-4838A>G
c.-47-4838A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521534
chr2:54521675 G
G
 A
A
 1 a0001c0005t0008g0041
a0001c0005t0008g0041
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.-47-4697G>A
c.-47-4697G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521675
chr2:54521724 A
A
 G
G
 4 a0001c0002t0001g0231
a0001c0002t0001g0324
a0001c0002t0001g0325
others(1): Show 
a0001c0002t0001g0231
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
 4 NA18959.hp2
NA18969.hp1
NA19001.hp1
others(1): Show 
NA18959.hp2
NA18969.hp1
NA19001.hp1
NA19088.hp2
 intron_variant MODIFIER c.-47-4648A>G
c.-47-4648A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521724
chr2:54521863 A
A
 G
G
 1 a0001c0001t0022g0118
a0001c0001t0022g0118
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.-47-4509A>G
c.-47-4509A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54521863
chr2:54522010 A
A
 G
G
 1 a0001c0001t0002g0017
a0001c0001t0002g0017
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.-47-4362A>G
c.-47-4362A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522010
chr2:54522042 C
C
 T
T
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-47-4330C>T
c.-47-4330C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522042
chr2:54522063 A
A
 AT
AT
 13 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(10): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 13 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(10): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.-47-4297dupT
c.-47-4297dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522063
chr2:54522082 G
G
 A
A
 20 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(17): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 20 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(17): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-4290G>A
c.-47-4290G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522082
chr2:54522091 G
G
 A
A
 86 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
others(83): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0002c0006t0003g0141
a0003c0031t0004g0063
a0004c0032t0004g0329
a0008c0030t0030g0174
 86 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(83): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18522.hp1
NA18522.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19043.hp1
NA19054.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-47-4281G>A
c.-47-4281G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522091
chr2:54522223 C
C
 A
A
 1 a0001c0010t0002g0140
a0001c0010t0002g0140
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.-47-4149C>A
c.-47-4149C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522223
chr2:54522398 A
A
 G
G
 2 a0001c0002t0001g0082
a0001c0002t0001g0121
a0001c0002t0001g0082
a0001c0002t0001g0121
 2 NA18989.hp2
NA19085.hp1
NA18989.hp2
NA19085.hp1
 intron_variant MODIFIER c.-47-3974A>G
c.-47-3974A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522398
chr2:54522399 A
A
 G
G
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-3973A>G
c.-47-3973A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522399
chr2:54522407 G
G
 C
C
 88 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
others(85): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0002c0006t0003g0141
a0003c0031t0004g0063
a0004c0032t0004g0329
a0008c0030t0030g0174
 88 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(85): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18522.hp1
NA18522.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19043.hp1
NA19054.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-47-3965G>C
c.-47-3965G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522407
chr2:54522560 G
G
 A
A
 279 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(276): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 279 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(276): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-3812G>A
c.-47-3812G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522560
chr2:54522630 C
C
 CAAAA
CAAAA
 227 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(224): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0003t0009g0234
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0007g0280
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0268
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0141
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 227 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(224): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-3740_-47-3737d
others(6): Show 
c.-47-3740_-47-3737dupAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522630
chr2:54522636 G
G
 A
A
 60 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(57): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0007t0001g0192
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0286
a0001c0009t0010g0088
a0001c0011t0003g0228
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0263
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 60 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(57): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01943.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19067.hp1
NA19081.hp1
NA19084.hp2
NA19090.hp2
NA20300.hp2
 intron_variant MODIFIER c.-47-3736G>A
c.-47-3736G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522636
chr2:54522642 A
A
 AAAGAGAG
others(32): Show 
AAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-47-3729_-47-3728i
others(41): Show 
c.-47-3729_-47-3728insAGAGAGAGAGAGGAGAGAGAGAGAGAGA
GGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522642
chr2:54522642 A
A
 AAGAGAGA
others(23): Show 
AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGG
 2 a0002c0006t0003g0185
a0002c0006t0003g0200
a0002c0006t0003g0185
a0002c0006t0003g0200
 2 HG04204.hp1
NA18955.hp2
HG04204.hp1
NA18955.hp2
 intron_variant MODIFIER c.-47-3727_-47-3726i
others(32): Show 
c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA
GA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522642
chr2:54522642 A
A
 AAGAGAGA
others(25): Show 
AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAG
 3 a0002c0006t0003g0152
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0152
a0002c0006t0003g0179
a0002c0006t0003g0184
 3 NA18974.hp1
NA18989.hp1
NA19090.hp2
NA18974.hp1
NA18989.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-3727_-47-3726i
others(34): Show 
c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA
GAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522642
chr2:54522642 A
A
 AAGAGAGA
others(31): Show 
AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG
 1 a0002c0006t0003g0151
a0002c0006t0003g0151
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.-47-3727_-47-3726i
others(40): Show 
c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA
GAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522642
chr2:54522642 A
A
 AAGAGAGA
others(33): Show 
AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAGAG
 1 a0002c0006t0003g0178
a0002c0006t0003g0178
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.-47-3727_-47-3726i
others(42): Show 
c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA
GAGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522642
chr2:54522643 A
A
 AGAGAGAG
others(21): Show 
AGAGAGAGAGAGGAGAGAGAGAGAGAGAG
 1 a0002c0006t0003g0188
a0002c0006t0003g0188
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.-47-3727_-47-3726i
others(30): Show 
c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522643
chr2:54522645 A
A
 AGAGAGAG
others(19): Show 
AGAGAGAGAGGAGAGAGAGAGAGAGAG
 1 a0002c0006t0003g0016
a0002c0006t0003g0016
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.-47-3727_-47-3726i
others(28): Show 
c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522645
chr2:54522646 A
A
 AAGAAAGA
others(30): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0003t0003g0319
a0001c0003t0003g0319
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(39): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(38): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
 2 a0001c0003t0003g0292
a0001c0003t0004g0024
a0001c0003t0003g0292
a0001c0003t0004g0024
 2 HG01106.hp1
NA18950.hp1
HG01106.hp1
NA18950.hp1
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(47): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGAGAGAGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(40): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0006c0027t0003g0075
a0006c0027t0003g0075
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(49): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGAGAGAGAGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(50): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
AGAGAGAG
 1 a0001c0011t0003g0228
a0001c0011t0003g0228
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(59): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGAGAGAGAGAGAGAGAGAGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(27): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGG
 2 a0001c0003t0003g0261
a0001c0011t0023g0230
a0001c0003t0003g0261
a0001c0011t0023g0230
 2 HG00280.hp1
HG02965.hp1
HG00280.hp1
HG02965.hp1
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(36): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(29): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAG
 2 a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0227
a0001c0003t0009g0233
 2 NA18941.hp2
NA18954.hp2
NA18941.hp2
NA18954.hp2
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(38): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(31): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAG
 2 a0001c0003t0003g0037
a0001c0025t0003g0352
a0001c0003t0003g0037
a0001c0025t0003g0352
 2 HG00609.hp2
HG03098.hp2
HG00609.hp2
HG03098.hp2
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(40): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(33): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAG
 2 a0001c0001t0007g0196
a0001c0026t0006g0102
a0001c0001t0007g0196
a0001c0026t0006g0102
 2 HG00438.hp1
NA19084.hp2
HG00438.hp1
NA19084.hp2
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(42): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(35): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG
 3 a0001c0001t0007g0270
a0001c0001t0044g0297
a0001c0003t0009g0235
a0001c0001t0007g0270
a0001c0001t0044g0297
a0001c0003t0009g0235
 3 NA18951.hp2
NA19012.hp2
NA19056.hp2
NA18951.hp2
NA19012.hp2
NA19056.hp2
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(44): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGGAGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(37): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAGAG
 4 a0001c0002t0004g0101
a0001c0003t0003g0113
a0001c0003t0003g0357
others(1): Show 
a0001c0002t0004g0101
a0001c0003t0003g0113
a0001c0003t0003g0357
a0001c0003t0003g0360
 4 HG01109.hp1
HG01258.hp2
HG03579.hp2
others(1): Show 
HG01109.hp1
HG01258.hp2
HG03579.hp2
NA19010.hp2
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(46): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGGAGAGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAAAGA
others(43): Show 
AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGA
G
 1 a0001c0003t0003g0074
a0001c0003t0003g0074
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(52): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGGAGAGAGAGAGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 AAGAGAGA
others(31): Show 
AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG
 1 a0001c0003t0003g0320
a0001c0003t0003g0320
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.-47-3715_-47-3714i
others(40): Show 
c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGAGAGAGAGA
GAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522646
chr2:54522646 A
A
 G
G
 10 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
others(7): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 10 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(7): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-3726A>G
c.-47-3726A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522646
chr2:54522647 A
A
 AGAAAGAG
others(25): Show 
AGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAG
 3 a0001c0003t0003g0139
a0001c0003t0027g0053
a0001c0011t0023g0229
a0001c0003t0003g0139
a0001c0003t0027g0053
a0001c0011t0023g0229
 3 HG01168.hp2
NA18906.hp2
NA20300.hp2
HG01168.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(34): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AGGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522647
chr2:54522647 A
A
 AGAGAGAG
others(21): Show 
AGAGAGAGAGAGGAGAGAGAGAGAGAGAG
 1 a0001c0003t0003g0256
a0001c0003t0003g0256
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.-47-3715_-47-3714i
others(30): Show 
c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522647
chr2:54522649 A
A
 AAAGAGAG
others(23): Show 
AAAGAGAGAGAGAGGAGAGAGAGAGAGAGAG
 8 a0001c0003t0003g0036
a0001c0003t0003g0177
a0001c0003t0003g0355
others(5): Show 
a0001c0003t0003g0036
a0001c0003t0003g0177
a0001c0003t0003g0355
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0007c0024t0009g0232
 8 HG00099.hp1
HG02015.hp2
HG02109.hp1
others(5): Show 
HG00099.hp1
HG02015.hp2
HG02109.hp1
HG03490.hp2
HG03492.hp1
NA18940.hp1
NA18982.hp1
NA19067.hp1
 intron_variant MODIFIER c.-47-3723_-47-3722i
others(32): Show 
c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG
AG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522649
chr2:54522650 G
G
 A
A
 4 a0001c0001t0007g0296
a0001c0003t0003g0073
a0001c0003t0003g0138
others(1): Show 
a0001c0001t0007g0296
a0001c0003t0003g0073
a0001c0003t0003g0138
a0001c0003t0003g0356
 4 HG02258.hp2
NA18986.hp1
NA18992.hp1
others(1): Show 
HG02258.hp2
NA18986.hp1
NA18992.hp1
NA19043.hp2
 intron_variant MODIFIER c.-47-3722G>A
c.-47-3722G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522650
chr2:54522651 A
A
 AGAGAGAG
others(17): Show 
AGAGAGAGGAGAGAGAGAGAGAGAG
 1 a0001c0003t0003g0257
a0001c0003t0003g0257
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.-47-3715_-47-3714i
others(26): Show 
c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522651
chr2:54522652 G
G
 GAGAGAA
GAGAGAA
 81 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
others(78): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0002c0006t0003g0141
a0003c0031t0004g0063
a0004c0032t0004g0329
a0008c0030t0030g0174
 81 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(78): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18522.hp1
NA18522.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19043.hp1
NA19054.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-47-3714_-47-3709d
others(8): Show 
c.-47-3714_-47-3709dupAAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522652
chr2:54522652 G
G
 GAGAGAGA
others(1): Show 
GAGAGAGAA
 3 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 3 HG02145.hp2
HG02615.hp1
HG03139.hp1
HG02145.hp2
HG02615.hp1
HG03139.hp1
 intron_variant MODIFIER c.-47-3715_-47-3714i
others(10): Show 
c.-47-3715_-47-3714insGAAAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522652
chr2:54522653 A
A
 AGAGAGGA
others(15): Show 
AGAGAGGAGAGAGAGAGAGAGAG
 2 a0001c0003t0009g0234
a0001c0011t0003g0268
a0001c0003t0009g0234
a0001c0011t0003g0268
 2 HG04115.hp2
NA19062.hp2
HG04115.hp2
NA19062.hp2
 intron_variant MODIFIER c.-47-3715_-47-3714i
others(24): Show 
c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522653
chr2:54522655 A
A
 AGAGGAGA
others(13): Show 
AGAGGAGAGAGAGAGAGAGAG
 2 a0001c0003t0003g0262
a0001c0003t0032g0321
a0001c0003t0003g0262
a0001c0003t0032g0321
 2 HG01884.hp1
HG03831.hp1
HG01884.hp1
HG03831.hp1
 intron_variant MODIFIER c.-47-3715_-47-3714i
others(22): Show 
c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522655
chr2:54522657 A
A
 AGGAGAGA
others(9): Show 
AGGAGAGAGAGAGAGAG
 1 a0001c0003t0033g0172
a0001c0003t0033g0172
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.-47-3715_-47-3714i
others(18): Show 
c.-47-3715_-47-3714insGGAGAGAGAGAGAGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522657
chr2:54522657 A
A
 AGGAGAGA
others(11): Show 
AGGAGAGAGAGAGAGAGAG
 3 a0001c0003t0027g0054
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0003t0027g0054
a0001c0003t0036g0361
a0001c0011t0003g0171
 3 HG00140.hp2
HG02698.hp2
NA19240.hp1
HG00140.hp2
HG02698.hp2
NA19240.hp1
 intron_variant MODIFIER c.-47-3715_-47-3714i
others(20): Show 
c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522657
chr2:54522658 A
A
 AAGAG
AAGAG
 82 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(79): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0091
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
 82 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(79): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01433.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02258.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.-47-3697_-47-3694d
others(6): Show 
c.-47-3697_-47-3694dupAGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522658
chr2:54522658 A
A
 G
G
 59 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(56): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0036g0361
a0001c0007t0001g0192
a0001c0009t0002g0285
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0263
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 59 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(56): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19081.hp1
NA19084.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-3714A>G
c.-47-3714A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522658
chr2:54522659 A
A
 G
G
 1 a0001c0003t0033g0172
a0001c0003t0033g0172
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.-47-3713A>G
c.-47-3713A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522659
chr2:54522660 G
G
 A
A
 1 a0001c0009t0002g0285
a0001c0009t0002g0285
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.-47-3712G>A
c.-47-3712G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522660
chr2:54522661 A
A
 AG
AG
 4 a0001c0001t0007g0296
a0001c0003t0003g0073
a0001c0003t0003g0138
others(1): Show 
a0001c0001t0007g0296
a0001c0003t0003g0073
a0001c0003t0003g0138
a0001c0003t0003g0356
 4 HG02258.hp2
NA18986.hp1
NA18992.hp1
others(1): Show 
HG02258.hp2
NA18986.hp1
NA18992.hp1
NA19043.hp2
 intron_variant MODIFIER c.-47-3710dupG
c.-47-3710dupG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522661
chr2:54522677 A
A
 G
G
 30 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(27): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0003t0003g0304
a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 30 HG00735.hp1
HG00738.hp1
HG01106.hp2
others(27): Show 
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp2
HG01975.hp1
HG01978.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02809.hp2
HG02895.hp2
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG06807.hp2
NA18906.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-3695A>G
c.-47-3695A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522677
chr2:54522677 AG
AG
 A
A
 3 a0001c0001t0002g0216
a0001c0003t0003g0355
a0001c0003t0009g0236
a0001c0001t0002g0216
a0001c0003t0003g0355
a0001c0003t0009g0236
 3 HG00099.hp1
NA18940.hp1
NA19076.hp1
HG00099.hp1
NA18940.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-3693delG
c.-47-3693delG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522677
chr2:54522678 G
G
 A
A
 30 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(27): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0003t0003g0304
a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 30 HG00735.hp1
HG00738.hp1
HG01106.hp2
others(27): Show 
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp2
HG01975.hp1
HG01978.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02809.hp2
HG02895.hp2
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG06807.hp2
NA18906.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-3694G>A
c.-47-3694G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522678
chr2:54522678 G
G
 GA
GA
 51 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0044g0297
others(48): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 51 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(48): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-3694_-47-3693i
others(3): Show 
c.-47-3694_-47-3693insA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522678
chr2:54522678 G
G
 GAGAGGAG
others(1): Show 
GAGAGGAGA
 3 a0001c0008t0005g0306
a0001c0016t0005g0099
a0009c0022t0051g0078
a0001c0008t0005g0306
a0001c0016t0005g0099
a0009c0022t0051g0078
 3 HG02055.hp1
HG03688.hp1
HG03942.hp2
HG02055.hp1
HG03688.hp1
HG03942.hp2
 intron_variant MODIFIER c.-47-3694_-47-3693i
others(10): Show 
c.-47-3694_-47-3693insAGAGGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522678
chr2:54522678 G
G
 GAGAGGAG
others(3): Show 
GAGAGGAGAGA
 1 a0001c0002t0006g0313
a0001c0002t0006g0313
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-47-3694_-47-3693i
others(12): Show 
c.-47-3694_-47-3693insAGAGGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522678
chr2:54522678 G
G
 GAGAGGAG
others(5): Show 
GAGAGGAGAGAGA
 10 a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
others(7): Show 
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0299
a0001c0002t0006g0314
a0001c0016t0005g0064
 10 HG00738.hp2
HG01123.hp1
HG01175.hp1
others(7): Show 
HG00738.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02257.hp1
HG02273.hp2
HG03654.hp1
 intron_variant MODIFIER c.-47-3694_-47-3693i
others(14): Show 
c.-47-3694_-47-3693insAGAGGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522678
chr2:54522678 G
G
 GAGAGGAG
others(17): Show 
GAGAGGAGAGAGAGAGAGAGAGAGA
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.-47-3694_-47-3693i
others(26): Show 
c.-47-3694_-47-3693insAGAGGAGAGAGAGAGAGAGAGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522678
chr2:54522678 G
G
 GAGGAGA
GAGGAGA
 15 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(12): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0365
 15 HG01167.hp2
HG01255.hp2
HG02055.hp2
others(12): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-3694_-47-3693i
others(8): Show 
c.-47-3694_-47-3693insAGGAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522678
chr2:54522688 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-47-3684A>G
c.-47-3684A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522688
chr2:54522691 G
G
 A
A
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.-47-3681G>A
c.-47-3681G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522691
chr2:54522693 G
G
 GAAAGAGA
others(5): Show 
GAAAGAGAAAGAA
 1 a0001c0001t0005g0221
a0001c0001t0005g0221
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-3678_-47-3677i
others(14): Show 
c.-47-3678_-47-3677insAAGAGAAAGAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522693
chr2:54522695 G
G
 A
A
 1 a0001c0016t0005g0064
a0001c0016t0005g0064
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.-47-3677G>A
c.-47-3677G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522695
chr2:54522697 G
G
 A
A
 88 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
others(85): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0002c0006t0003g0141
a0003c0031t0004g0063
a0004c0032t0004g0329
a0008c0030t0030g0174
a0010c0034t0001g0002
 88 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(85): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19043.hp1
NA19054.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-47-3675G>A
c.-47-3675G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522697
chr2:54522697 G
G
 GAAAGAGA
others(5): Show 
GAAAGAGAAAGAA
 11 a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
others(8): Show 
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0008t0005g0245
 11 HG00738.hp2
HG01123.hp1
HG01175.hp1
others(8): Show 
HG00738.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02257.hp1
HG02273.hp2
HG02965.hp2
HG03669.hp1
 intron_variant MODIFIER c.-47-3674_-47-3673i
others(14): Show 
c.-47-3674_-47-3673insAAGAGAAAGAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAAAGAGA
others(9): Show 
GAAAGAGAAAGAAAGAA
 17 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(14): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0016t0005g0099
a0009c0022t0051g0078
 17 HG01167.hp2
HG01255.hp2
HG02055.hp1
others(14): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-47-3674_-47-3673i
others(18): Show 
c.-47-3674_-47-3673insAAGAGAAAGAAAGAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAAAGA
others(11): Show 
GAGAAAGAGAAAGAAAGAA
 1 a0001c0013t0015g0259
a0001c0013t0015g0259
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.-47-3668_-47-3667i
others(20): Show 
c.-47-3668_-47-3667insGAAAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAAAGA
others(15): Show 
GAGAAAGAGAAAGAAAGAAAGAA
 2 a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0255
a0001c0013t0015g0258
 2 HG03209.hp1
NA18906.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.-47-3668_-47-3667i
others(24): Show 
c.-47-3668_-47-3667insGAAAGAAAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAAA
others(17): Show 
GAGAGAAAGAGAAAGAAAGAAAGAA
 1 a0001c0013t0015g0263
a0001c0013t0015g0263
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(26): Show 
c.-47-3672_-47-3671insGAAAGAGAAAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(15): Show 
GAGAGAGAGAGAAAGAGAAAGAA
 6 a0001c0001t0002g0293
a0001c0002t0001g0204
a0001c0002t0006g0148
others(3): Show 
a0001c0001t0002g0293
a0001c0002t0001g0204
a0001c0002t0006g0148
a0001c0002t0006g0281
a0001c0004t0004g0218
a0001c0007t0001g0302
 6 HG00741.hp1
HG01256.hp2
HG01981.hp2
others(3): Show 
HG00741.hp1
HG01256.hp2
HG01981.hp2
HG01993.hp1
NA18954.hp1
NA19055.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(24): Show 
c.-47-3672_-47-3671insGAGAGAGAAAGAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(19): Show 
GAGAGAGAGAGAAAGAGAAAGAAAGAA
 1 a0001c0001t0049g0076
a0001c0001t0049g0076
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(28): Show 
c.-47-3672_-47-3671insGAGAGAGAAAGAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(17): Show 
GAGAGAGAGAGAGAAAGAGAAAGAA
 55 a0001c0001t0002g0123
a0001c0001t0004g0091
a0001c0001t0029g0100
others(52): Show 
a0001c0001t0002g0123
a0001c0001t0004g0091
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0077
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0271
a0001c0002t0006g0284
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0366
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0029t0007g0290
a0005c0028t0001g0006
 55 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(52): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01071.hp1
HG01257.hp1
HG02080.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03491.hp2
HG03704.hp1
HG06807.hp2
NA18612.hp1
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18983.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19002.hp1
NA19056.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(26): Show 
c.-47-3672_-47-3671insGAGAGAGAGAAAGAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(21): Show 
GAGAGAGAGAGAGAAAGAGAAAGAAAGAA
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0005t0012g0369
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0026g0364
 5 HG01109.hp2
HG02257.hp2
HG02258.hp1
others(2): Show 
HG01109.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(30): Show 
c.-47-3672_-47-3671insGAGAGAGAGAAAGAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(19): Show 
GAGAGAGAGAGAGAGAAAGAGAAAGAA
 15 a0001c0001t0001g0087
a0001c0001t0002g0338
a0001c0002t0001g0065
others(12): Show 
a0001c0001t0001g0087
a0001c0001t0002g0338
a0001c0002t0001g0065
a0001c0002t0001g0080
a0001c0002t0001g0086
a0001c0002t0001g0326
a0001c0002t0006g0278
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0305
a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
 15 HG01433.hp1
HG02083.hp1
HG02083.hp2
others(12): Show 
HG01433.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG03098.hp1
HG03195.hp1
HG03516.hp2
HG03654.hp2
HG04115.hp1
NA18946.hp2
NA18977.hp1
NA18978.hp2
NA19001.hp1
NA19054.hp2
NA19058.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(28): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAAAGAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(18): Show 
GAGAGAGAGAGAGAGAAGAGAAAGAA
 2 a0001c0002t0001g0133
a0001c0002t0006g0276
a0001c0002t0001g0133
a0001c0002t0006g0276
 2 HG02071.hp1
HG02683.hp1
HG02071.hp1
HG02683.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(27): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAAGAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(21): Show 
GAGAGAGAGAGAGAGAGAAAGAGAAAGAA
 2 a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0066
a0001c0002t0001g0067
 2 HG01081.hp1
HG01192.hp2
HG01081.hp1
HG01192.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(30): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAAAGAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(23): Show 
GAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA
 7 a0001c0001t0001g0156
a0001c0002t0001g0146
a0001c0002t0001g0147
others(4): Show 
a0001c0001t0001g0156
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0006g0116
a0001c0009t0007g0280
a0001c0009t0007g0336
a0001c0014t0001g0013
 7 HG01106.hp2
HG01975.hp1
HG02004.hp1
others(4): Show 
HG01106.hp2
HG01975.hp1
HG02004.hp1
HG02004.hp2
HG02293.hp2
NA18944.hp2
NA18985.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(32): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAAAGAGAAAGAAA
GA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(31): Show 
GAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAA
 1 a0001c0001t0050g0242
a0001c0001t0050g0242
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(40): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAAAGAGAAAGAAA
GAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(25): Show 
GAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA
 5 a0001c0002t0001g0275
a0001c0009t0007g0272
a0001c0009t0007g0289
others(2): Show 
a0001c0002t0001g0275
a0001c0009t0007g0272
a0001c0009t0007g0289
a0001c0009t0045g0298
a0001c0018t0007g0112
 5 HG00735.hp1
HG01167.hp1
HG01433.hp2
others(2): Show 
HG00735.hp1
HG01167.hp1
HG01433.hp2
HG01978.hp2
HG02976.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(34): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAAAGAGAAAGA
AAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(27): Show 
GAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA
 2 a0001c0009t0010g0088
a0001c0018t0042g0027
a0001c0009t0010g0088
a0001c0018t0042g0027
 2 HG02559.hp2
HG03491.hp1
HG02559.hp2
HG03491.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(36): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAAAGAGAAA
GAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(35): Show 
GAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAA
 1 a0001c0012t0016g0135
a0001c0012t0016g0135
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(44): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAAAGAGAAA
GAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(26): Show 
GAGAGAGAGAGAGAGAGAGAGAGAAGAGAAAGAA
 2 a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0286
a0001c0009t0007g0288
 2 HG01169.hp2
HG03492.hp2
HG01169.hp2
HG03492.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(35): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAAGAGAAAG
AAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(37): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAA
 1 a0001c0001t0019g0241
a0001c0001t0019g0241
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(46): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAAAGAGA
AAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(25): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA
 1 a0001c0009t0002g0285
a0001c0009t0002g0285
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(34): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAAAGA
AAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(43): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAAAGA
A
 1 a0001c0012t0016g0026
a0001c0012t0016g0026
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(52): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAAAGA
GAAAGAAAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(31): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(40): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAGAAA
GAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(38): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAAAGAAAGAA
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(47): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAGAGA
AGAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(37): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(46): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAGAGA
GAAAGAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(47): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGA
AAGAA
 1 a0001c0012t0016g0189
a0001c0012t0016g0189
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(56): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAGAGA
GAGAAAGAGAAAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522697 G
G
 GAGAGAGA
others(53): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAA
GAAAGAAAGAA
 1 a0001c0012t0016g0153
a0001c0012t0016g0153
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.-47-3672_-47-3671i
others(62): Show 
c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAGAGA
GAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522697
chr2:54522701 A
A
 G
G
 38 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(35): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0004g0101
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 38 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(35): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-3671A>G
c.-47-3671A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522701
chr2:54522704 A
A
 AGAGAGAG
others(18): Show 
AGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0003t0003g0138
a0001c0003t0003g0138
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-47-3668_-47-3667i
others(27): Show 
c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522704
chr2:54522704 A
A
 AGAGAGAG
others(20): Show 
AGAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0003t0003g0356
a0001c0003t0003g0356
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.-47-3668_-47-3667i
others(29): Show 
c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522704
chr2:54522704 A
A
 AGAGAGAG
others(28): Show 
AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0003t0003g0073
a0001c0003t0003g0073
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.-47-3668_-47-3667i
others(37): Show 
c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAGAGA
GAGAGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522704
chr2:54522704 A
A
 AGAGAGAG
others(44): Show 
AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
AG
 1 a0001c0001t0007g0296
a0001c0001t0007g0296
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.-47-3668_-47-3667i
others(53): Show 
c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAGAGA
GAGAGAGAGAGAGAGAGAGAGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522704
chr2:54522708 A
A
 G
G
 14 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
others(11): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0002c0006t0003g0014
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
 14 HG01884.hp1
HG02109.hp1
HG02630.hp2
others(11): Show 
HG01884.hp1
HG02109.hp1
HG02630.hp2
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03579.hp2
HG04228.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-3664A>G
c.-47-3664A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522708
chr2:54522711 G
G
 A
A
 14 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
others(11): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0002c0006t0003g0014
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
 14 HG01884.hp1
HG02109.hp1
HG02630.hp2
others(11): Show 
HG01884.hp1
HG02109.hp1
HG02630.hp2
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03579.hp2
HG04228.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-3661G>A
c.-47-3661G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522711
chr2:54522711 G
G
 GAAAGAAA
others(9): Show 
GAAAGAAAGAAAGGAAA
 1 a0001c0016t0005g0064
a0001c0016t0005g0064
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.-47-3661_-47-3660i
others(18): Show 
c.-47-3661_-47-3660insAAAGAAAGAAAGGAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522711
chr2:54522711 G
G
 GGAAA
GGAAA
 7 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
others(4): Show 
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0200
a0008c0030t0030g0174
 7 HG02602.hp1
HG02717.hp2
HG02738.hp2
others(4): Show 
HG02602.hp1
HG02717.hp2
HG02738.hp2
HG03669.hp2
HG04204.hp1
NA18994.hp2
NA20905.hp2
 intron_variant MODIFIER c.-47-3640_-47-3637d
others(6): Show 
c.-47-3640_-47-3637dupGAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54522711
chr2:54522755 G
G
 A
A
 29 a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
others(26): Show 
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0003t0003g0304
a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 29 HG00735.hp1
HG00738.hp1
HG01106.hp2
others(26): Show 
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02809.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG06807.hp2
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.-47-3617G>A
c.-47-3617G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522755
chr2:54522876 T
T
 G
G
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.-47-3496T>G
c.-47-3496T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54522876
chr2:54523015 T
T
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-47-3357T>A
c.-47-3357T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523015
chr2:54523133 T
T
 C
C
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-3239T>C
c.-47-3239T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523133
chr2:54523134 C
C
 A
A
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-3238C>A
c.-47-3238C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523134
chr2:54523135 A
A
 T
T
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-3237A>T
c.-47-3237A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523135
chr2:54523242 T
T
 C
C
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.-47-3130T>C
c.-47-3130T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523242
chr2:54523253 A
A
 G
G
 9 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(6): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0224
a0001c0001t0002g0349
 9 HG00558.hp1
NA18944.hp1
NA18946.hp1
others(6): Show 
HG00558.hp1
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18963.hp2
NA18971.hp2
NA18978.hp1
NA19058.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-3119A>G
c.-47-3119A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523253
chr2:54523354 G
G
 A
A
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.-47-3018G>A
c.-47-3018G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523354
chr2:54523432 T
T
 C
C
 2 a0001c0002t0029g0339
a0001c0007t0001g0302
a0001c0002t0029g0339
a0001c0007t0001g0302
 2 HG00639.hp2
HG01256.hp2
HG00639.hp2
HG01256.hp2
 intron_variant MODIFIER c.-47-2940T>C
c.-47-2940T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523432
chr2:54523655 C
C
 T
T
 11 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(8): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0008c0030t0030g0174
 11 HG02615.hp2
HG02630.hp1
HG02717.hp2
others(8): Show 
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-2717C>T
c.-47-2717C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523655
chr2:54523721 G
G
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-47-2651G>A
c.-47-2651G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523721
chr2:54523922 G
G
 A
A
 8 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(5): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0036g0361
 8 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(5): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02698.hp2
 intron_variant MODIFIER c.-47-2450G>A
c.-47-2450G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523922
chr2:54523926 A
A
 T
T
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-2446A>T
c.-47-2446A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523926
chr2:54523975 A
A
 G
G
 288 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(285): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 288 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(285): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-2397A>G
c.-47-2397A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54523975
chr2:54524016 T
T
 G
G
 1 a0001c0001t0040g0300
a0001c0001t0040g0300
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.-47-2356T>G
c.-47-2356T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54524016
chr2:54524200 A
A
 C
C
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-47-2172A>C
c.-47-2172A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54524200
chr2:54524412 A
A
 G
G
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-47-1960A>G
c.-47-1960A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54524412
chr2:54524434 A
A
 G
G
 2 a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0066
a0001c0002t0001g0067
 2 HG01081.hp1
HG01192.hp2
HG01081.hp1
HG01192.hp2
 intron_variant MODIFIER c.-47-1938A>G
c.-47-1938A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54524434
chr2:54524756 C
C
 T
T
 1 a0001c0002t0006g0157
a0001c0002t0006g0157
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.-47-1616C>T
c.-47-1616C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54524756
chr2:54524834 A
A
 C
C
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-1538A>C
c.-47-1538A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54524834
chr2:54524949 AT
AT
 A
A
 190 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(187): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0216
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0204
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 190 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(187): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18964.hp1
NA18964.hp2
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-1414delT
c.-47-1414delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 INFO_REALIGN_3_PRIME chr2 54524949
chr2:54525123 A
A
 G
G
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-47-1249A>G
c.-47-1249A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525123
chr2:54525207 C
C
 G
G
 288 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(285): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 288 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(285): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-1165C>G
c.-47-1165C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525207
chr2:54525209 A
A
 G
G
 289 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
others(286): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 289 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(286): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-1163A>G
c.-47-1163A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525209
chr2:54525265 T
T
 C
C
 16 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(13): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 16 HG02145.hp2
HG02486.hp2
HG02559.hp1
others(13): Show 
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.-47-1107T>C
c.-47-1107T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525265
chr2:54525318 C
C
 T
T
 2 a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0253
a0001c0005t0011g0254
 2 HG02572.hp1
HG03209.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.-47-1054C>T
c.-47-1054C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525318
chr2:54525336 C
C
 T
T
 2 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0008g0041
a0001c0005t0021g0040
 2 HG02486.hp2
HG02818.hp2
HG02486.hp2
HG02818.hp2
 intron_variant MODIFIER c.-47-1036C>T
c.-47-1036C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525336
chr2:54525357 A
A
 T
T
 288 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(285): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 288 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(285): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-1015A>T
c.-47-1015A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525357
chr2:54525369 C
C
 T
T
 1 a0001c0004t0004g0209
a0001c0004t0004g0209
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.-47-1003C>T
c.-47-1003C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525369
chr2:54525375 A
A
 G
G
 33 a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0004t0002g0161
others(30): Show 
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0016t0005g0064
a0001c0016t0005g0099
a0008c0030t0030g0174
 33 HG02145.hp2
HG02486.hp2
HG02559.hp1
others(30): Show 
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.-47-997A>G
c.-47-997A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525375
chr2:54525397 C
C
 T
T
 2 a0001c0001t0019g0031
a0001c0008t0026g0364
a0001c0001t0019g0031
a0001c0008t0026g0364
 2 HG02257.hp2
NA20300.hp1
HG02257.hp2
NA20300.hp1
 intron_variant MODIFIER c.-47-975C>T
c.-47-975C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525397
chr2:54525495 A
A
 C
C
 1 a0001c0002t0001g0103
a0001c0002t0001g0103
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.-47-877A>C
c.-47-877A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525495
chr2:54525500 C
C
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-47-872C>G
c.-47-872C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525500
chr2:54525611 T
T
 C
C
 1 a0001c0001t0040g0300
a0001c0001t0040g0300
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.-47-761T>C
c.-47-761T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525611
chr2:54525612 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.-47-760A>G
c.-47-760A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525612
chr2:54525754 G
G
 A
A
 55 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
others(52): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.-47-618G>A
c.-47-618G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525754
chr2:54525865 G
G
 T
T
 5 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(2): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0005t0008g0368
 5 HG01167.hp2
HG01255.hp2
HG02109.hp2
others(2): Show 
HG01167.hp2
HG01255.hp2
HG02109.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.-47-507G>T
c.-47-507G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525865
chr2:54525921 G
G
 A
A
 2 a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0253
a0001c0005t0011g0254
 2 HG02572.hp1
HG03209.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.-47-451G>A
c.-47-451G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54525921
chr2:54526077 G
G
 C
C
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.-47-295G>C
c.-47-295G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54526077
chr2:54526095 T
T
 G
G
 2 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0043
a0001c0007t0013g0044
 2 HG02145.hp2
HG03139.hp1
HG02145.hp2
HG03139.hp1
 intron_variant MODIFIER c.-47-277T>G
c.-47-277T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54526095
chr2:54526129 C
C
 G
G
 288 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(285): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 288 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(285): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-47-243C>G
c.-47-243C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 1/35 chr2 54526129
chr2:54526649 C
C
 T
T
 2 a0001c0001t0002g0090
a0001c0001t0002g0128
a0001c0001t0002g0090
a0001c0001t0002g0128
 2 NA18956.hp1
NA19055.hp2
NA18956.hp1
NA19055.hp2
 intron_variant MODIFIER c.148+83C>T
c.148+83C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54526649
chr2:54526695 T
T
 A
A
 1 a0001c0002t0001g0333
a0001c0002t0001g0333
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.148+129T>A
c.148+129T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54526695
chr2:54526854 C
C
 T
T
 94 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(91): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0091
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 94 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(91): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.148+288C>T
c.148+288C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54526854
chr2:54526976 C
C
 T
T
 18 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(15): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 18 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(15): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+410C>T
c.148+410C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54526976
chr2:54527067 G
G
 A
A
 1 a0001c0004t0004g0358
a0001c0004t0004g0358
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.148+501G>A
c.148+501G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527067
chr2:54527154 TGAG
TGAG
 T
T
 42 a0001c0001t0004g0070
a0001c0001t0014g0097
a0001c0004t0004g0068
others(39): Show 
a0001c0001t0004g0070
a0001c0001t0014g0097
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0019t0012g0246
a0001c0019t0012g0252
a0003c0031t0004g0063
a0004c0032t0004g0329
 42 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(39): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03490.hp1
HG03540.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+592_148+594del
others(3): Show 
c.148+592_148+594delGAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54527154
chr2:54527173 A
A
 T
T
 1 a0001c0003t0009g0227
a0001c0003t0009g0227
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.148+607A>T
c.148+607A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527173
chr2:54527180 C
C
 G
G
 2 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0001t0019g0241
a0001c0001t0050g0242
 2 HG02280.hp2
NA21309.hp1
HG02280.hp2
NA21309.hp1
 intron_variant MODIFIER c.148+614C>G
c.148+614C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527180
chr2:54527180 C
C
 T
T
 1 a0001c0001t0005g0342
a0001c0001t0005g0342
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.148+614C>T
c.148+614C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527180
chr2:54527216 C
C
 G
G
 2 a0001c0001t0005g0354
a0001c0023t0005g0283
a0001c0001t0005g0354
a0001c0023t0005g0283
 2 HG01123.hp2
HG01517.hp1
HG01123.hp2
HG01517.hp1
 intron_variant MODIFIER c.148+650C>G
c.148+650C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527216
chr2:54527357 A
A
 G
G
 98 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(95): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0091
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 98 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(95): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.148+791A>G
c.148+791A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527357
chr2:54527621 T
T
 C
C
 13 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(10): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 13 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(10): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+1055T>C
c.148+1055T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527621
chr2:54527639 T
T
 C
C
 1 a0001c0001t0022g0164
a0001c0001t0022g0164
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.148+1073T>C
c.148+1073T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527639
chr2:54527718 A
A
 G
G
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.148+1152A>G
c.148+1152A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527718
chr2:54527758 A
A
 G
G
 21 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(18): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0005t0043g0039
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 21 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(18): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+1192A>G
c.148+1192A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54527758
chr2:54528053 T
T
 G
G
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.148+1487T>G
c.148+1487T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528053
chr2:54528054 G
G
 A
A
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.148+1488G>A
c.148+1488G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528054
chr2:54528055 A
A
 G
G
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.148+1489A>G
c.148+1489A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528055
chr2:54528092 A
A
 G
G
 55 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
others(52): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+1526A>G
c.148+1526A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528092
chr2:54528678 C
C
 G
G
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.148+2112C>G
c.148+2112C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528678
chr2:54528699 TA
TA
 T
T
 227 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(224): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0218
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0011t0003g0171
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0008c0030t0030g0174
a0010c0034t0001g0002
 227 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(224): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+2149delA
c.148+2149delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54528699
chr2:54528741 A
A
 G
G
 55 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
others(52): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+2175A>G
c.148+2175A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528741
chr2:54528947 G
G
 A
A
 7 a0001c0005t0008g0176
a0001c0008t0005g0046
a0001c0008t0005g0243
others(4): Show 
a0001c0005t0008g0176
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
 7 HG02055.hp1
HG02451.hp1
HG02809.hp1
others(4): Show 
HG02055.hp1
HG02451.hp1
HG02809.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
NA19030.hp2
 intron_variant MODIFIER c.148+2381G>A
c.148+2381G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528947
chr2:54528949 A
A
 G
G
 118 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(115): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 118 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(115): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+2383A>G
c.148+2383A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528949
chr2:54528987 TGTGGGAC
others(3): Show 
TGTGGGACAGA
 T
T
 5 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(2): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
 5 HG02886.hp2
HG03471.hp1
HG03579.hp1
others(2): Show 
HG02886.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+2422_148+2431d
others(12): Show 
c.148+2422_148+2431delGTGGGACAGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528987
chr2:54528998 A
A
 T
T
 5 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(2): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
 5 HG02886.hp2
HG03471.hp1
HG03579.hp1
others(2): Show 
HG02886.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+2432A>T
c.148+2432A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54528998
chr2:54529138 G
G
 A
A
 5 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(2): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0005t0008g0368
 5 HG01167.hp2
HG01255.hp2
HG02109.hp2
others(2): Show 
HG01167.hp2
HG01255.hp2
HG02109.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.148+2572G>A
c.148+2572G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529138
chr2:54529147 T
T
 G
G
 2 a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0288
a0001c0009t0007g0289
 2 HG01167.hp1
HG01169.hp2
HG01167.hp1
HG01169.hp2
 intron_variant MODIFIER c.148+2581T>G
c.148+2581T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529147
chr2:54529238 T
T
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+2672T>G
c.148+2672T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529238
chr2:54529251 C
C
 A
A
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.148+2685C>A
c.148+2685C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529251
chr2:54529331 G
G
 C
C
 1 a0001c0004t0004g0170
a0001c0004t0004g0170
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.148+2765G>C
c.148+2765G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529331
chr2:54529476 C
C
 T
T
 1 a0001c0005t0034g0003
a0001c0005t0034g0003
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.148+2910C>T
c.148+2910C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529476
chr2:54529488 G
G
 C
C
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.148+2922G>C
c.148+2922G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529488
chr2:54529515 C
C
 T
T
 5 a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0115
others(2): Show 
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0115
a0001c0002t0001g0124
a0001c0002t0006g0089
 5 HG02083.hp1
NA18964.hp2
NA18970.hp2
others(2): Show 
HG02083.hp1
NA18964.hp2
NA18970.hp2
NA18986.hp2
NA18987.hp1
 intron_variant MODIFIER c.148+2949C>T
c.148+2949C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529515
chr2:54529516 G
G
 A
A
 12 a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
others(9): Show 
a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0008c0030t0030g0174
 12 HG02615.hp2
HG02630.hp1
HG02717.hp2
others(9): Show 
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+2950G>A
c.148+2950G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529516
chr2:54529539 C
C
 T
T
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.148+2973C>T
c.148+2973C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529539
chr2:54529603 C
C
 T
T
 260 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(257): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0235
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 260 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(257): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+3037C>T
c.148+3037C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529603
chr2:54529706 G
G
 A
A
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.148+3140G>A
c.148+3140G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529706
chr2:54529840 A
A
 G
G
 2 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0002g0249
a0001c0001t0002g0367
 2 HG02717.hp1
HG02922.hp1
HG02717.hp1
HG02922.hp1
 intron_variant MODIFIER c.148+3274A>G
c.148+3274A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54529840
chr2:54529852 C
C
 CA
CA
 9 a0001c0001t0002g0094
a0001c0001t0002g0316
a0001c0001t0004g0092
others(6): Show 
a0001c0001t0002g0094
a0001c0001t0002g0316
a0001c0001t0004g0092
a0001c0001t0005g0106
a0001c0001t0005g0341
a0001c0001t0005g0354
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0162
 9 HG01123.hp2
HG01361.hp2
HG01978.hp1
others(6): Show 
HG01123.hp2
HG01361.hp2
HG01978.hp1
HG03927.hp2
NA18941.hp1
NA18970.hp1
NA18979.hp2
NA19054.hp1
NA19067.hp2
 intron_variant MODIFIER c.148+3318dupA
c.148+3318dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54529852
chr2:54529852 CA
CA
 C
C
 96 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0012
others(93): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0163
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0004g0001
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0014g0104
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0040g0300
a0001c0001t0050g0242
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0147
a0001c0002t0001g0273
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0276
a0001c0002t0006g0281
a0001c0002t0029g0339
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0008g0056
a0001c0005t0008g0368
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0021g0052
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0311
a0001c0008t0005g0306
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0013t0015g0255
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0020t0002g0034
 96 HG00140.hp1
HG00408.hp1
HG00408.hp2
others(93): Show 
HG00140.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01167.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01361.hp1
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02109.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG03041.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03669.hp2
HG03942.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18956.hp2
NA18962.hp2
NA18964.hp1
NA18968.hp1
NA18969.hp2
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18998.hp2
NA19001.hp2
NA19002.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19058.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19076.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.148+3318delA
c.148+3318delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54529852
chr2:54529852 CAA
CAA
 C
C
 70 a0001c0001t0004g0091
a0001c0001t0007g0196
a0001c0001t0007g0270
others(67): Show 
a0001c0001t0004g0091
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0010
a0001c0002t0001g0077
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0121
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0274
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0334
a0001c0002t0005g0122
a0001c0002t0006g0271
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0021g0040
a0001c0005t0025g0240
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0026g0365
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0010c0034t0001g0002
 70 HG00280.hp2
HG00323.hp2
HG00558.hp2
others(67): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp2
HG00741.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01884.hp2
HG01943.hp2
HG02040.hp1
HG02080.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03704.hp1
NA18522.hp1
NA18906.hp1
NA18951.hp1
NA18951.hp2
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19001.hp1
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19058.hp2
NA19076.hp2
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+3317_148+3318d
others(4): Show 
c.148+3317_148+3318delAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54529852
chr2:54529852 CAAA
CAAA
 C
C
 34 a0001c0001t0010g0238
a0001c0002t0001g0009
a0001c0002t0001g0080
others(31): Show 
a0001c0001t0010g0238
a0001c0002t0001g0009
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0115
a0001c0002t0001g0124
a0001c0002t0001g0146
a0001c0002t0001g0231
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0359
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0003t0003g0356
a0001c0003t0027g0053
a0001c0004t0002g0161
a0001c0004t0004g0218
a0001c0004t0004g0358
a0001c0005t0025g0250
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0260
a0001c0009t0007g0280
a0001c0021t0001g0197
a0005c0028t0001g0006
 34 HG01106.hp2
HG02083.hp1
HG02165.hp1
others(31): Show 
HG01106.hp2
HG02083.hp1
HG02165.hp1
HG02258.hp2
HG02451.hp1
HG02630.hp1
HG02970.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp2
NA18906.hp2
NA18944.hp2
NA18946.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18986.hp2
NA18987.hp1
NA18998.hp1
NA19002.hp1
NA19055.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19086.hp1
NA19088.hp2
 intron_variant MODIFIER c.148+3316_148+3318d
others(5): Show 
c.148+3316_148+3318delAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54529852
chr2:54529852 CAAAA
CAAAA
 C
C
 22 a0001c0002t0001g0275
a0001c0003t0003g0139
a0001c0003t0003g0292
others(19): Show 
a0001c0002t0001g0275
a0001c0003t0003g0139
a0001c0003t0003g0292
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0054
a0001c0003t0036g0361
a0001c0004t0004g0068
a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0170
a0001c0004t0004g0194
a0001c0004t0004g0201
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0009t0045g0298
a0001c0019t0012g0246
a0001c0029t0007g0290
a0006c0027t0003g0075
 22 HG00423.hp1
HG00735.hp1
HG00741.hp2
others(19): Show 
HG00423.hp1
HG00735.hp1
HG00741.hp2
HG01106.hp1
HG01175.hp2
HG01978.hp2
HG02080.hp1
HG02145.hp1
HG02622.hp2
HG02698.hp2
HG02895.hp1
HG02897.hp1
HG03688.hp2
HG04184.hp1
HG06807.hp2
NA18940.hp1
NA18940.hp2
NA18957.hp1
NA19000.hp2
NA19067.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+3315_148+3318d
others(6): Show 
c.148+3315_148+3318delAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54529852
chr2:54529852 CAAAAA
CAAAAA
 C
C
 77 a0001c0001t0004g0070
a0001c0001t0014g0097
a0001c0002t0001g0117
others(74): Show 
a0001c0001t0004g0070
a0001c0001t0014g0097
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0193
a0001c0004t0004g0195
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0035g0042
a0001c0009t0007g0272
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0007c0024t0009g0232
a0009c0022t0051g0078
 77 HG00099.hp1
HG00323.hp1
HG00438.hp1
others(74): Show 
HG00099.hp1
HG00323.hp1
HG00438.hp1
HG00609.hp2
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01975.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03927.hp1
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18993.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19082.hp2
NA19083.hp2
NA19086.hp2
NA19090.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+3314_148+3318d
others(7): Show 
c.148+3314_148+3318delAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54529852
chr2:54529852 CAAAAAA
CAAAAAA
 C
C
 6 a0001c0001t0005g0221
a0001c0003t0003g0262
a0001c0003t0009g0227
others(3): Show 
a0001c0001t0005g0221
a0001c0003t0003g0262
a0001c0003t0009g0227
a0001c0009t0002g0285
a0001c0016t0005g0064
a0001c0016t0005g0099
 6 HG01884.hp1
HG01943.hp1
HG03654.hp1
others(3): Show 
HG01884.hp1
HG01943.hp1
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA18941.hp2
 intron_variant MODIFIER c.148+3313_148+3318d
others(8): Show 
c.148+3313_148+3318delAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54529852
chr2:54529852 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 C
C
 2 a0001c0001t0002g0085
a0001c0002t0006g0313
a0001c0001t0002g0085
a0001c0002t0006g0313
 2 HG03669.hp1
NA18963.hp2
HG03669.hp1
NA18963.hp2
 intron_variant MODIFIER c.148+3305_148+3318d
others(16): Show 
c.148+3305_148+3318delAAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54529852
chr2:54530105 C
C
 T
T
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.148+3539C>T
c.148+3539C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530105
chr2:54530353 C
C
 CT
CT
 15 a0001c0001t0002g0018
a0001c0001t0002g0217
a0001c0001t0002g0301
others(12): Show 
a0001c0001t0002g0018
a0001c0001t0002g0217
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0350
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0221
a0001c0001t0005g0309
a0001c0001t0005g0346
a0001c0001t0020g0022
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0226
 15 HG02027.hp1
HG02027.hp2
HG03654.hp1
others(12): Show 
HG02027.hp1
HG02027.hp2
HG03654.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp2
NA18974.hp2
NA18978.hp1
NA18979.hp2
NA19000.hp1
NA19010.hp1
NA19068.hp2
NA19079.hp2
NA19090.hp1
 intron_variant MODIFIER c.148+3810dupT
c.148+3810dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTT
CTTTTT
 34 a0001c0002t0001g0333
a0001c0002t0004g0101
a0001c0002t0028g0294
others(31): Show 
a0001c0002t0001g0333
a0001c0002t0004g0101
a0001c0002t0028g0294
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0004g0024
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0023g0229
a0001c0011t0023g0230
a0006c0027t0003g0075
a0007c0024t0009g0232
 34 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(31): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG01106.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
NA18906.hp2
NA18940.hp1
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19002.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+3806_148+3810d
others(7): Show 
c.148+3806_148+3810dupTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTT
CTTTTTT
 89 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(86): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0004g0091
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0287
a0001c0002t0001g0308
a0001c0002t0001g0324
a0001c0002t0001g0330
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0157
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0237
a0001c0003t0032g0321
a0001c0004t0002g0161
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0025g0240
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0007t0013g0137
a0001c0008t0005g0244
a0001c0008t0005g0260
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0141
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0010c0034t0001g0002
 89 HG00140.hp1
HG00280.hp2
HG00438.hp1
others(86): Show 
HG00140.hp1
HG00280.hp2
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG01071.hp1
HG01081.hp1
HG01109.hp1
HG01123.hp1
HG01192.hp2
HG01257.hp1
HG01943.hp2
HG01975.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp2
HG02895.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03491.hp2
HG03516.hp2
HG03654.hp2
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18964.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA19005.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+3805_148+3810d
others(8): Show 
c.148+3805_148+3810dupTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
CTTTTTTT
 45 a0001c0001t0002g0338
a0001c0001t0007g0196
a0001c0002t0001g0028
others(42): Show 
a0001c0001t0002g0338
a0001c0001t0007g0196
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0103
a0001c0002t0001g0115
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0274
a0001c0002t0001g0307
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0002t0006g0089
a0001c0002t0006g0148
a0001c0002t0006g0155
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0302
a0001c0007t0013g0108
a0001c0008t0005g0046
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0151
a0002c0006t0003g0152
a0005c0028t0001g0006
 45 HG00408.hp1
HG00738.hp2
HG00741.hp1
others(42): Show 
HG00408.hp1
HG00738.hp2
HG00741.hp1
HG01109.hp2
HG01175.hp1
HG01256.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG01993.hp1
HG02080.hp2
HG02083.hp2
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02630.hp2
HG02698.hp1
HG02809.hp1
HG02897.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03669.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp1
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp1
NA18987.hp1
NA18992.hp2
NA18994.hp2
NA19001.hp1
NA19064.hp1
NA19082.hp1
NA19084.hp2
NA19086.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+3804_148+3810d
others(9): Show 
c.148+3804_148+3810dupTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 11 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(8): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0002t0001g0147
a0001c0005t0008g0176
a0001c0008t0005g0243
a0001c0008t0005g0245
a0001c0008t0005g0306
a0001c0013t0015g0263
 11 HG01167.hp2
HG01255.hp2
HG02055.hp1
others(8): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02293.hp2
HG02451.hp2
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03453.hp1
HG03471.hp2
HG06807.hp1
 intron_variant MODIFIER c.148+3803_148+3810d
others(10): Show 
c.148+3803_148+3810dupTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 1 a0001c0005t0008g0368
a0001c0005t0008g0368
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.148+3801_148+3810d
others(12): Show 
c.148+3801_148+3810dupTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 2 a0001c0004t0004g0166
a0001c0004t0007g0055
a0001c0004t0004g0166
a0001c0004t0007g0055
 2 HG01496.hp2
HG02922.hp2
HG01496.hp2
HG02922.hp2
 intron_variant MODIFIER c.148+3800_148+3810d
others(13): Show 
c.148+3800_148+3810dupTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 25 a0001c0001t0004g0070
a0001c0001t0004g0129
a0001c0001t0004g0143
others(22): Show 
a0001c0001t0004g0070
a0001c0001t0004g0129
a0001c0001t0004g0143
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0004t0004g0069
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0195
a0001c0004t0004g0264
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0004g0358
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0175
a0001c0004t0035g0042
a0001c0019t0012g0246
 25 HG00323.hp1
HG00609.hp1
HG01071.hp2
others(22): Show 
HG00323.hp1
HG00609.hp1
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01257.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG03490.hp1
HG03927.hp1
HG04184.hp1
NA18990.hp2
NA18993.hp1
NA19001.hp2
NA19062.hp1
NA19064.hp2
NA20129.hp1
 intron_variant MODIFIER c.148+3799_148+3810d
others(14): Show 
c.148+3799_148+3810dupTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 23 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0092
others(20): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0092
a0001c0001t0004g0125
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0145
a0001c0001t0014g0104
a0001c0002t0001g0111
a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0201
a0001c0004t0004g0205
a0001c0004t0004g0265
a0001c0004t0004g0318
a0001c0004t0010g0109
a0001c0004t0010g0348
a0001c0019t0012g0252
a0001c0033t0007g0248
a0009c0022t0051g0078
 23 HG00438.hp2
HG00741.hp2
HG01175.hp2
others(20): Show 
HG00438.hp2
HG00741.hp2
HG01175.hp2
HG01192.hp1
HG01258.hp1
HG01981.hp1
HG02080.hp1
HG03540.hp1
HG03688.hp1
HG03688.hp2
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18957.hp1
NA19054.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19083.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.148+3798_148+3810d
others(15): Show 
c.148+3798_148+3810dupTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 6 a0001c0001t0004g0093
a0001c0001t0004g0144
a0001c0004t0004g0202
others(3): Show 
a0001c0001t0004g0093
a0001c0001t0004g0144
a0001c0004t0004g0202
a0001c0004t0004g0277
a0001c0004t0010g0315
a0003c0031t0004g0063
 6 HG02145.hp1
NA18955.hp1
NA18979.hp1
others(3): Show 
HG02145.hp1
NA18955.hp1
NA18979.hp1
NA18987.hp2
NA19000.hp2
NA19088.hp1
 intron_variant MODIFIER c.148+3797_148+3810d
others(16): Show 
c.148+3797_148+3810dupTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 2 a0001c0004t0004g0209
a0004c0032t0004g0329
a0001c0004t0004g0209
a0004c0032t0004g0329
 2 NA19005.hp2
NA19082.hp2
NA19005.hp2
NA19082.hp2
 intron_variant MODIFIER c.148+3796_148+3810d
others(17): Show 
c.148+3796_148+3810dupTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 1 a0001c0001t0014g0105
a0001c0001t0014g0105
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.148+3795_148+3810d
others(18): Show 
c.148+3795_148+3810dupTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 CT
CT
 C
C
 15 a0001c0001t0002g0021
a0001c0002t0001g0275
a0001c0007t0013g0044
others(12): Show 
a0001c0001t0002g0021
a0001c0002t0001g0275
a0001c0007t0013g0044
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 15 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(12): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02145.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA19091.hp2
 intron_variant MODIFIER c.148+3810delT
c.148+3810delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530353 CTT
CTT
 C
C
 27 a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
others(24): Show 
a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0008t0005g0045
a0008c0030t0030g0174
 27 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(24): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+3809_148+3810d
others(4): Show 
c.148+3809_148+3810delTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530353
chr2:54530381 C
C
 T
T
 55 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
others(52): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+3815C>T
c.148+3815C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530381
chr2:54530465 TCTG
TCTG
 T
T
 12 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(9): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 12 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+3904_148+3906d
others(5): Show 
c.148+3904_148+3906delTGC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54530465
chr2:54530467 T
T
 A
A
 98 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(95): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0091
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 98 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(95): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20752.hp2
 intron_variant MODIFIER c.148+3901T>A
c.148+3901T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530467
chr2:54530548 G
G
 A
A
 6 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(3): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0357
a0001c0003t0003g0360
 6 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(3): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
 intron_variant MODIFIER c.148+3982G>A
c.148+3982G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530548
chr2:54530561 G
G
 A
A
 1 a0001c0002t0001g0121
a0001c0002t0001g0121
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.148+3995G>A
c.148+3995G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530561
chr2:54530578 C
C
 T
T
 55 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
others(52): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+4012C>T
c.148+4012C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530578
chr2:54530648 C
C
 T
T
 1 a0001c0007t0013g0137
a0001c0007t0013g0137
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.148+4082C>T
c.148+4082C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530648
chr2:54530780 A
A
 G
G
 1 a0001c0005t0011g0051
a0001c0005t0011g0051
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.148+4214A>G
c.148+4214A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530780
chr2:54530815 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+4249A>G
c.148+4249A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530815
chr2:54530913 C
C
 A
A
 1 a0001c0002t0001g0103
a0001c0002t0001g0103
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.148+4347C>A
c.148+4347C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530913
chr2:54530996 G
G
 A
A
 1 a0001c0001t0040g0300
a0001c0001t0040g0300
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.148+4430G>A
c.148+4430G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54530996
chr2:54531168 A
A
 G
G
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.148+4602A>G
c.148+4602A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54531168
chr2:54531184 G
G
 C
C
 1 a0001c0004t0010g0109
a0001c0004t0010g0109
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+4618G>C
c.148+4618G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54531184
chr2:54531204 G
G
 A
A
 1 a0001c0008t0005g0260
a0001c0008t0005g0260
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.148+4638G>A
c.148+4638G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54531204
chr2:54531273 C
C
 T
T
 2 a0001c0009t0007g0286
a0001c0009t0010g0088
a0001c0009t0007g0286
a0001c0009t0010g0088
 2 HG03491.hp1
HG03492.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.148+4707C>T
c.148+4707C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54531273
chr2:54531455 T
T
 C
C
 1 a0001c0001t0004g0070
a0001c0001t0004g0070
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.148+4889T>C
c.148+4889T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54531455
chr2:54531465 T
T
 G
G
 11 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(8): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0008c0030t0030g0174
 11 HG02615.hp2
HG02630.hp1
HG02717.hp2
others(8): Show 
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+4899T>G
c.148+4899T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54531465
chr2:54531608 G
G
 GT
GT
 53 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
others(50): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0025g0250
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 53 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01168.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+5054dupT
c.148+5054dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54531608
chr2:54531801 C
C
 T
T
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.148+5235C>T
c.148+5235C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54531801
chr2:54531813 C
C
 T
T
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.148+5247C>T
c.148+5247C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54531813
chr2:54532203 C
C
 T
T
 24 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(21): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0008c0030t0030g0174
 24 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(21): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+5637C>T
c.148+5637C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532203
chr2:54532240 G
G
 C
C
 8 a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
others(5): Show 
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
 8 NA18945.hp1
NA18955.hp2
NA18957.hp2
others(5): Show 
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.148+5674G>C
c.148+5674G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532240
chr2:54532272 G
G
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+5706G>C
c.148+5706G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532272
chr2:54532412 T
T
 C
C
 20 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(17): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 20 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(17): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+5846T>C
c.148+5846T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532412
chr2:54532593 G
G
 A
A
 237 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(234): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0009c0022t0051g0078
a0010c0034t0001g0002
 237 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(234): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+6027G>A
c.148+6027G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532593
chr2:54532615 C
C
 G
G
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+6049C>G
c.148+6049C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532615
chr2:54532654 T
T
 C
C
 294 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(291): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 294 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(291): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+6088T>C
c.148+6088T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532654
chr2:54532901 C
C
 T
T
 120 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(117): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 120 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(117): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+6335C>T
c.148+6335C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532901
chr2:54532963 T
T
 C
C
 1 a0001c0002t0001g0065
a0001c0002t0001g0065
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.148+6397T>C
c.148+6397T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54532963
chr2:54533033 A
A
 G
G
 2 a0001c0009t0007g0286
a0001c0009t0010g0088
a0001c0009t0007g0286
a0001c0009t0010g0088
 2 HG03491.hp1
HG03492.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.148+6467A>G
c.148+6467A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533033
chr2:54533111 G
G
 A
A
 1 a0001c0011t0023g0230
a0001c0011t0023g0230
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.148+6545G>A
c.148+6545G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533111
chr2:54533349 A
A
 AGT
AGT
 21 a0001c0001t0002g0120
a0001c0001t0002g0338
a0001c0001t0007g0296
others(18): Show 
a0001c0001t0002g0120
a0001c0001t0002g0338
a0001c0001t0007g0296
a0001c0001t0040g0300
a0001c0002t0001g0065
a0001c0002t0001g0186
a0001c0002t0001g0287
a0001c0002t0001g0310
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0222
a0001c0007t0013g0108
a0001c0008t0026g0364
a0001c0014t0001g0013
a0001c0014t0001g0029
 21 HG00408.hp1
HG01346.hp1
HG02080.hp2
others(18): Show 
HG00408.hp1
HG01346.hp1
HG02080.hp2
HG02083.hp2
HG02257.hp2
HG02615.hp2
HG03041.hp2
HG03139.hp2
HG03491.hp2
HG04115.hp1
NA18950.hp2
NA18956.hp2
NA18968.hp2
NA18971.hp1
NA18985.hp2
NA18992.hp1
NA18992.hp2
NA19043.hp1
NA19056.hp1
NA19058.hp2
NA19065.hp1
 intron_variant MODIFIER c.148+6828_148+6829d
others(4): Show 
c.148+6828_148+6829dupGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 A
A
 AGTGT
AGTGT
 4 a0001c0001t0018g0180
a0001c0005t0003g0004
a0001c0005t0003g0005
others(1): Show 
a0001c0001t0018g0180
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0011g0051
 4 HG02818.hp1
HG03453.hp2
HG03516.hp1
others(1): Show 
HG02818.hp1
HG03453.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+6826_148+6829d
others(6): Show 
c.148+6826_148+6829dupGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 A
A
 AGTGTGT
AGTGTGT
 3 a0001c0001t0002g0349
a0001c0004t0004g0107
a0001c0004t0004g0170
a0001c0001t0002g0349
a0001c0004t0004g0107
a0001c0004t0004g0170
 3 HG00741.hp2
NA18990.hp2
NA19058.hp1
HG00741.hp2
NA18990.hp2
NA19058.hp1
 intron_variant MODIFIER c.148+6824_148+6829d
others(8): Show 
c.148+6824_148+6829dupGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 A
A
 AGTGTGTG
others(1): Show 
AGTGTGTGT
 3 a0001c0001t0005g0136
a0001c0004t0004g0358
a0001c0005t0034g0003
a0001c0001t0005g0136
a0001c0004t0004g0358
a0001c0005t0034g0003
 3 HG00099.hp2
HG03130.hp2
NA19064.hp2
HG00099.hp2
HG03130.hp2
NA19064.hp2
 intron_variant MODIFIER c.148+6822_148+6829d
others(10): Show 
c.148+6822_148+6829dupGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 AGT
AGT
 A
A
 53 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0020
others(50): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0020
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0123
a0001c0001t0002g0214
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0004g0145
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0005g0353
a0001c0001t0007g0019
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0303
a0001c0001t0019g0183
a0001c0001t0020g0022
a0001c0001t0020g0032
a0001c0001t0049g0076
a0001c0002t0001g0010
a0001c0002t0001g0082
a0001c0002t0006g0278
a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0166
a0001c0004t0004g0218
a0001c0004t0007g0057
a0001c0005t0008g0056
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0043g0039
a0001c0007t0001g0311
a0001c0008t0005g0045
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0012t0016g0135
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0099
a0001c0017t0002g0226
a0008c0030t0030g0174
a0009c0022t0051g0078
 53 HG00408.hp2
HG00423.hp2
HG00639.hp1
others(50): Show 
HG00408.hp2
HG00423.hp2
HG00639.hp1
HG00735.hp2
HG00738.hp1
HG01496.hp2
HG01978.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02109.hp2
HG02135.hp1
HG02165.hp2
HG02280.hp1
HG02293.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG03017.hp1
HG03490.hp1
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03942.hp2
HG04228.hp2
NA18952.hp1
NA18959.hp1
NA18964.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp2
NA18977.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18998.hp2
NA19000.hp1
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19055.hp1
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA20905.hp2
 intron_variant MODIFIER c.148+6828_148+6829d
others(4): Show 
c.148+6828_148+6829delGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 AGTGT
AGTGT
 A
A
 71 a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0021
others(68): Show 
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0021
a0001c0001t0002g0079
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0219
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0293
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0213
a0001c0001t0018g0127
a0001c0001t0022g0118
a0001c0002t0001g0111
a0001c0002t0001g0204
a0001c0002t0001g0307
a0001c0002t0029g0339
a0001c0004t0004g0069
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0131
a0001c0004t0004g0134
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0266
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0007g0055
a0001c0004t0035g0042
a0001c0005t0011g0253
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0245
a0001c0008t0026g0365
a0001c0009t0007g0272
a0001c0009t0007g0286
a0001c0009t0010g0088
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0023t0005g0283
a0003c0031t0004g0063
a0004c0032t0004g0329
 71 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(68): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00639.hp2
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01346.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01993.hp2
HG02015.hp1
HG02027.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02273.hp1
HG02300.hp2
HG02602.hp2
HG02622.hp2
HG02683.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG04184.hp1
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18957.hp1
NA18962.hp2
NA18968.hp1
NA18979.hp1
NA18982.hp2
NA18985.hp1
NA18987.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19005.hp2
NA19054.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp2
NA19082.hp2
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+6826_148+6829d
others(6): Show 
c.148+6826_148+6829delGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 AGTGTGT
AGTGTGT
 A
A
 29 a0001c0002t0001g0275
a0001c0002t0006g0313
a0001c0004t0002g0161
others(26): Show 
a0001c0002t0001g0275
a0001c0002t0006g0313
a0001c0004t0002g0161
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0267
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0007t0001g0302
a0001c0008t0005g0306
a0001c0009t0002g0285
a0001c0009t0007g0280
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0020t0002g0034
a0001c0029t0007g0290
a0001c0033t0007g0248
 29 HG00735.hp1
HG01071.hp2
HG01081.hp2
others(26): Show 
HG00735.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02647.hp1
HG03195.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp2
HG06807.hp2
NA18522.hp1
NA19240.hp2
NA20905.hp1
 intron_variant MODIFIER c.148+6824_148+6829d
others(8): Show 
c.148+6824_148+6829delGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 AGTGTGTG
others(1): Show 
AGTGTGTGT
 A
A
 11 a0001c0001t0002g0210
a0001c0004t0010g0175
a0001c0005t0008g0041
others(8): Show 
a0001c0001t0002g0210
a0001c0004t0010g0175
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0176
a0001c0005t0021g0040
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0260
a0001c0009t0045g0298
 11 HG01978.hp2
HG02451.hp1
HG02486.hp2
others(8): Show 
HG01978.hp2
HG02451.hp1
HG02486.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp2
HG03927.hp1
NA19030.hp2
NA20752.hp1
 intron_variant MODIFIER c.148+6822_148+6829d
others(10): Show 
c.148+6822_148+6829delGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 A
A
 13 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0257
others(10): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0257
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0033g0172
a0001c0025t0003g0352
a0002c0006t0003g0200
a0007c0024t0009g0232
 13 HG00609.hp2
HG02630.hp2
HG04204.hp1
others(10): Show 
HG00609.hp2
HG02630.hp2
HG04204.hp1
NA18612.hp1
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA19010.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
 intron_variant MODIFIER c.148+6820_148+6829d
others(12): Show 
c.148+6820_148+6829delGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 A
A
 42 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
others(39): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0006c0027t0003g0075
 42 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(39): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp2
NA18945.hp1
NA18950.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19043.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+6818_148+6829d
others(14): Show 
c.148+6818_148+6829delGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533349 AGTGTGTG
others(11): Show 
AGTGTGTGTGTGTGTGTGT
 A
A
 1 a0001c0002t0001g0274
a0001c0002t0001g0274
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.148+6812_148+6829d
others(20): Show 
c.148+6812_148+6829delGTGTGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533349
chr2:54533415 G
G
 C
C
 3 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
 3 HG02055.hp2
HG02818.hp1
HG03540.hp2
HG02055.hp2
HG02818.hp1
HG03540.hp2
 intron_variant MODIFIER c.148+6849G>C
c.148+6849G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533415
chr2:54533516 T
T
 C
C
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.148+6950T>C
c.148+6950T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533516
chr2:54533596 G
G
 C
C
 3 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 3 HG02145.hp2
HG02615.hp1
HG03139.hp1
HG02145.hp2
HG02615.hp1
HG03139.hp1
 intron_variant MODIFIER c.148+7030G>C
c.148+7030G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533596
chr2:54533671 T
T
 C
C
 275 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(272): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 275 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(272): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+7105T>C
c.148+7105T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533671
chr2:54533683 T
T
 C
C
 264 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(261): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 264 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(261): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+7117T>C
c.148+7117T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533683
chr2:54533751 A
A
 G
G
 16 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(13): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 16 HG02145.hp2
HG02486.hp2
HG02559.hp1
others(13): Show 
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03139.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+7185A>G
c.148+7185A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533751
chr2:54533843 G
G
 A
A
 264 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(261): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 264 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(261): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+7277G>A
c.148+7277G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533843
chr2:54533846 C
C
 T
T
 1 a0001c0013t0015g0259
a0001c0013t0015g0259
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.148+7280C>T
c.148+7280C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533846
chr2:54533847 G
G
 A
A
 4 a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
others(1): Show 
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 4 NA18945.hp2
NA18957.hp1
NA18993.hp1
others(1): Show 
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA19000.hp2
 intron_variant MODIFIER c.148+7281G>A
c.148+7281G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533847
chr2:54533900 T
T
 TCA
TCA
 6 a0001c0001t0002g0007
a0001c0001t0002g0090
a0001c0001t0002g0128
others(3): Show 
a0001c0001t0002g0007
a0001c0001t0002g0090
a0001c0001t0002g0128
a0001c0001t0004g0092
a0001c0001t0005g0136
a0001c0001t0007g0019
 6 HG00099.hp2
HG02165.hp2
NA18612.hp2
others(3): Show 
HG00099.hp2
HG02165.hp2
NA18612.hp2
NA18956.hp1
NA19055.hp2
NA19067.hp2
 intron_variant MODIFIER c.148+7360_148+7361d
others(4): Show 
c.148+7360_148+7361dupAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533900
chr2:54533900 TCA
TCA
 T
T
 5 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0002t0001g0307
others(2): Show 
a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0002t0001g0307
a0001c0007t0013g0108
a0001c0007t0013g0137
 5 HG02717.hp1
HG02922.hp1
HG03139.hp2
others(2): Show 
HG02717.hp1
HG02922.hp1
HG03139.hp2
HG03195.hp2
NA19086.hp1
 intron_variant MODIFIER c.148+7360_148+7361d
others(4): Show 
c.148+7360_148+7361delAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533900
chr2:54533900 TCACA
TCACA
 T
T
 113 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(110): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0129
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 113 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(110): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+7358_148+7361d
others(6): Show 
c.148+7358_148+7361delACAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533900
chr2:54533900 TCACACA
TCACACA
 T
T
 69 a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0010g0238
others(66): Show 
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0003t0009g0235
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0003c0031t0004g0063
a0004c0032t0004g0329
a0008c0030t0030g0174
a0009c0022t0051g0078
 69 HG00323.hp1
HG00741.hp2
HG01168.hp1
others(66): Show 
HG00323.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02080.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19043.hp1
NA19056.hp2
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA19240.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+7356_148+7361d
others(8): Show 
c.148+7356_148+7361delACACAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533900
chr2:54533900 TCACACAC
others(1): Show 
TCACACACA
 T
T
 54 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
others(51): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 54 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(51): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+7354_148+7361d
others(10): Show 
c.148+7354_148+7361delACACACAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533900
chr2:54533900 TCACACAC
others(3): Show 
TCACACACACA
 T
T
 9 a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
others(6): Show 
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0033t0007g0248
 9 HG01071.hp2
HG01081.hp2
HG01981.hp1
others(6): Show 
HG01071.hp2
HG01081.hp2
HG01981.hp1
HG02145.hp1
HG02145.hp2
HG03139.hp1
HG03688.hp2
HG03927.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+7352_148+7361d
others(12): Show 
c.148+7352_148+7361delACACACACAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533900
chr2:54533902 A
A
 T
T
 4 a0001c0001t0005g0341
a0001c0001t0014g0104
a0001c0001t0014g0105
others(1): Show 
a0001c0001t0005g0341
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
 4 HG01361.hp2
HG02738.hp2
HG03669.hp2
others(1): Show 
HG01361.hp2
HG02738.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.148+7336A>T
c.148+7336A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533902
chr2:54533908 A
A
 T
T
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.148+7342A>T
c.148+7342A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533908
chr2:54533911 CACACACA
others(25): Show 
CACACACACACACACACGCACGCACGCACACAA
 C
C
 4 a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
others(1): Show 
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0002t0001g0086
 4 HG02083.hp2
NA18954.hp1
NA18964.hp1
others(1): Show 
HG02083.hp2
NA18954.hp1
NA18964.hp1
NA18978.hp2
 intron_variant MODIFIER c.148+7356_148+7387d
others(34): Show 
c.148+7356_148+7387delACACACGCACGCACGCACACAAACACAC
ACAC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54533911
chr2:54533920 A
A
 G
G
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+7354A>G
c.148+7354A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533920
chr2:54533924 A
A
 G
G
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+7358A>G
c.148+7358A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533924
chr2:54533939 C
C
 T
T
 260 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(257): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 260 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(257): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+7373C>T
c.148+7373C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54533939
chr2:54534192 T
T
 C
C
 8 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(5): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0036g0361
 8 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(5): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02698.hp2
 intron_variant MODIFIER c.148+7626T>C
c.148+7626T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54534192
chr2:54534217 G
G
 T
T
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+7651G>T
c.148+7651G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54534217
chr2:54534272 G
G
 A
A
 4 a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
others(1): Show 
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
 4 HG02071.hp1
HG02135.hp1
HG02155.hp1
others(1): Show 
HG02071.hp1
HG02135.hp1
HG02155.hp1
NA18951.hp1
 intron_variant MODIFIER c.148+7706G>A
c.148+7706G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54534272
chr2:54534319 A
A
 G
G
 4 a0001c0001t0004g0070
a0001c0004t0004g0131
a0001c0004t0004g0166
others(1): Show 
a0001c0001t0004g0070
a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0170
 4 HG00323.hp1
HG00741.hp2
HG01496.hp2
others(1): Show 
HG00323.hp1
HG00741.hp2
HG01496.hp2
HG02602.hp2
 intron_variant MODIFIER c.148+7753A>G
c.148+7753A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54534319
chr2:54534396 C
C
 T
T
 264 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(261): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 264 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(261): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+7830C>T
c.148+7830C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54534396
chr2:54534513 G
G
 A
A
 1 a0001c0002t0006g0313
a0001c0002t0006g0313
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.148+7947G>A
c.148+7947G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54534513
chr2:54534676 C
C
 T
T
 1 a0001c0005t0011g0051
a0001c0005t0011g0051
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.148+8110C>T
c.148+8110C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54534676
chr2:54535095 T
T
 C
C
 4 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0007t0013g0108
others(1): Show 
a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG03139.hp2
HG03195.hp1
HG03195.hp2
others(1): Show 
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03516.hp2
 intron_variant MODIFIER c.148+8529T>C
c.148+8529T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54535095
chr2:54535260 T
T
 A
A
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.148+8694T>A
c.148+8694T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54535260
chr2:54535599 T
T
 G
G
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+9033T>G
c.148+9033T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54535599
chr2:54535811 T
T
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+9245T>G
c.148+9245T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54535811
chr2:54535848 C
C
 T
T
 97 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(94): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 97 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(94): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+9282C>T
c.148+9282C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54535848
chr2:54535914 G
G
 A
A
 1 a0001c0001t0019g0183
a0001c0001t0019g0183
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.148+9348G>A
c.148+9348G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54535914
chr2:54536011 C
C
 G
G
 1 a0001c0001t0005g0341
a0001c0001t0005g0341
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.148+9445C>G
c.148+9445C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536011
chr2:54536234 T
T
 G
G
 20 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(17): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 20 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(17): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+9668T>G
c.148+9668T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536234
chr2:54536312 A
A
 G
G
 2 a0001c0001t0019g0031
a0001c0008t0026g0364
a0001c0001t0019g0031
a0001c0008t0026g0364
 2 HG02257.hp2
NA20300.hp1
HG02257.hp2
NA20300.hp1
 intron_variant MODIFIER c.148+9746A>G
c.148+9746A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536312
chr2:54536577 G
G
 C
C
 1 a0009c0022t0051g0078
a0009c0022t0051g0078
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.148+10011G>C
c.148+10011G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536577
chr2:54536601 G
G
 A
A
 2 a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0005t0025g0250
a0001c0005t0043g0039
 2 HG02630.hp1
HG02886.hp1
HG02630.hp1
HG02886.hp1
 intron_variant MODIFIER c.148+10035G>A
c.148+10035G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536601
chr2:54536619 A
A
 G
G
 1 a0001c0001t0002g0349
a0001c0001t0002g0349
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.148+10053A>G
c.148+10053A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536619
chr2:54536627 A
A
 C
C
 1 a0001c0011t0003g0268
a0001c0011t0003g0268
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.148+10061A>C
c.148+10061A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536627
chr2:54536736 G
G
 T
T
 7 a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
others(4): Show 
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0033t0007g0248
 7 HG01071.hp2
HG01081.hp2
HG01981.hp1
others(4): Show 
HG01071.hp2
HG01081.hp2
HG01981.hp1
HG02145.hp1
HG03688.hp2
HG03927.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+10170G>T
c.148+10170G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536736
chr2:54536824 T
T
 G
G
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+10258T>G
c.148+10258T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54536824
chr2:54537186 G
G
 A
A
 2 a0001c0005t0008g0176
a0001c0008t0005g0260
a0001c0005t0008g0176
a0001c0008t0005g0260
 2 HG02451.hp1
HG03453.hp1
HG02451.hp1
HG03453.hp1
 intron_variant MODIFIER c.148+10620G>A
c.148+10620G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537186
chr2:54537295 A
A
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+10729A>T
c.148+10729A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537295
chr2:54537312 T
T
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+10746T>A
c.148+10746T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537312
chr2:54537376 C
C
 A
A
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.148+10810C>A
c.148+10810C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537376
chr2:54537562 G
G
 A
A
 44 a0001c0001t0004g0070
a0001c0001t0014g0097
a0001c0004t0004g0068
others(41): Show 
a0001c0001t0004g0070
a0001c0001t0014g0097
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0009c0022t0051g0078
 44 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03490.hp1
HG03540.hp1
HG03688.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+10996G>A
c.148+10996G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537562
chr2:54537579 A
A
 G
G
 1 a0001c0001t0005g0346
a0001c0001t0005g0346
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.148+11013A>G
c.148+11013A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537579
chr2:54537643 A
A
 G
G
 2 a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0098
a0001c0004t0004g0132
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.148+11077A>G
c.148+11077A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537643
chr2:54537646 T
T
 C
C
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.148+11080T>C
c.148+11080T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537646
chr2:54537790 A
A
 G
G
 20 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(17): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 20 HG01167.hp2
HG01255.hp2
HG01346.hp2
others(17): Show 
HG01167.hp2
HG01255.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+11224A>G
c.148+11224A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537790
chr2:54537903 A
A
 G
G
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+11337A>G
c.148+11337A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537903
chr2:54537993 A
A
 C
C
 1 a0001c0015t0002g0212
a0001c0015t0002g0212
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.148+11427A>C
c.148+11427A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54537993
chr2:54538015 G
G
 A
A
 276 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(273): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 276 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(273): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+11449G>A
c.148+11449G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538015
chr2:54538037 G
G
 A
A
 74 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(71): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0204
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0010c0034t0001g0002
 74 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(71): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18964.hp1
NA18964.hp2
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19081.hp1
NA19084.hp2
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.148+11471G>A
c.148+11471G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538037
chr2:54538180 A
A
 G
G
 1 a0001c0001t0002g0017
a0001c0001t0002g0017
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.148+11614A>G
c.148+11614A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538180
chr2:54538458 T
T
 C
C
 286 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(283): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 286 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(283): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+11892T>C
c.148+11892T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538458
chr2:54538485 A
A
 G
G
 1 a0001c0017t0002g0226
a0001c0017t0002g0226
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.148+11919A>G
c.148+11919A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538485
chr2:54538546 C
C
 T
T
 1 a0001c0002t0001g0204
a0001c0002t0001g0204
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.148+11980C>T
c.148+11980C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538546
chr2:54538802 G
G
 A
A
 11 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(8): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0008c0030t0030g0174
 11 HG02615.hp2
HG02630.hp1
HG02717.hp2
others(8): Show 
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+12236G>A
c.148+12236G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538802
chr2:54538897 C
C
 G
G
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.148+12331C>G
c.148+12331C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538897
chr2:54538987 C
C
 G
G
 3 a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
 3 HG03490.hp2
HG03492.hp1
HG03831.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp1
 intron_variant MODIFIER c.148+12421C>G
c.148+12421C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54538987
chr2:54539018 T
T
 A
A
 3 a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
 3 HG01993.hp2
HG02273.hp1
HG02300.hp2
HG01993.hp2
HG02273.hp1
HG02300.hp2
 intron_variant MODIFIER c.148+12452T>A
c.148+12452T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54539018
chr2:54539021 C
C
 A
A
 38 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0073
others(35): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 38 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(35): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+12455C>A
c.148+12455C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54539021
chr2:54539433 A
A
 C
C
 287 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(284): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 287 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(284): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+12867A>C
c.148+12867A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54539433
chr2:54539549 T
T
 A
A
 1 a0001c0001t0002g0351
a0001c0001t0002g0351
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.148+12983T>A
c.148+12983T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54539549
chr2:54539862 C
C
 CATT
CATT
 292 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(289): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 292 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(289): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+13299_148+1330
others(7): Show 
c.148+13299_148+13301dupTAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54539862
chr2:54540017 A
A
 G
G
 13 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(10): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 13 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(10): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+13451A>G
c.148+13451A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540017
chr2:54540157 G
G
 A
A
 2 a0001c0002t0029g0339
a0001c0007t0001g0302
a0001c0002t0029g0339
a0001c0007t0001g0302
 2 HG00639.hp2
HG01256.hp2
HG00639.hp2
HG01256.hp2
 intron_variant MODIFIER c.148+13591G>A
c.148+13591G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540157
chr2:54540240 T
T
 G
G
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.148+13674T>G
c.148+13674T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540240
chr2:54540263 C
C
 A
A
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.148+13697C>A
c.148+13697C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540263
chr2:54540278 TTC
TTC
 T
T
 7 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
others(4): Show 
a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 7 HG01884.hp2
HG02280.hp2
HG02809.hp2
others(4): Show 
HG01884.hp2
HG02280.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+13715_148+1371
others(6): Show 
c.148+13715_148+13716delTC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54540278
chr2:54540458 T
T
 C
C
 275 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(272): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 275 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(272): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+13892T>C
c.148+13892T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540458
chr2:54540655 A
A
 G
G
 35 a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0004t0002g0161
others(32): Show 
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0016t0005g0064
a0001c0016t0005g0099
a0008c0030t0030g0174
a0009c0022t0051g0078
 35 HG02145.hp2
HG02486.hp2
HG02559.hp1
others(32): Show 
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+14089A>G
c.148+14089A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540655
chr2:54540664 A
A
 G
G
 1 a0001c0002t0047g0279
a0001c0002t0047g0279
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.148+14098A>G
c.148+14098A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540664
chr2:54540868 A
A
 G
G
 2 a0001c0001t0002g0020
a0001c0001t0002g0035
a0001c0001t0002g0020
a0001c0001t0002g0035
 2 NA18959.hp1
NA18998.hp2
NA18959.hp1
NA18998.hp2
 intron_variant MODIFIER c.148+14302A>G
c.148+14302A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540868
chr2:54540963 C
C
 T
T
 2 a0001c0004t0002g0161
a0001c0005t0025g0240
a0001c0004t0002g0161
a0001c0005t0025g0240
 2 HG03195.hp1
HG03516.hp2
HG03195.hp1
HG03516.hp2
 intron_variant MODIFIER c.148+14397C>T
c.148+14397C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54540963
chr2:54541084 C
C
 T
T
 5 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(2): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0005t0008g0368
 5 HG01167.hp2
HG01255.hp2
HG02109.hp2
others(2): Show 
HG01167.hp2
HG01255.hp2
HG02109.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.148+14518C>T
c.148+14518C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54541084
chr2:54541085 A
A
 T
T
 5 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(2): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0005t0008g0368
 5 HG01167.hp2
HG01255.hp2
HG02109.hp2
others(2): Show 
HG01167.hp2
HG01255.hp2
HG02109.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.148+14519A>T
c.148+14519A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54541085
chr2:54541358 G
G
 T
T
 5 a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0115
others(2): Show 
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0115
a0001c0002t0001g0124
a0001c0002t0006g0089
 5 HG02083.hp1
NA18964.hp2
NA18970.hp2
others(2): Show 
HG02083.hp1
NA18964.hp2
NA18970.hp2
NA18986.hp2
NA18987.hp1
 intron_variant MODIFIER c.148+14792G>T
c.148+14792G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54541358
chr2:54541524 T
T
 C
C
 60 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
others(57): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0347
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 60 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(57): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03490.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19054.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.148+14958T>C
c.148+14958T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54541524
chr2:54541531 A
A
 G
G
 259 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(256): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0009c0022t0051g0078
a0010c0034t0001g0002
 259 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(256): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.148+14965A>G
c.148+14965A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54541531
chr2:54541629 C
C
 T
T
 2 a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0015t0002g0212
a0001c0015t0002g0220
 2 NA19084.hp1
NA19085.hp2
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.148+15063C>T
c.148+15063C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54541629
chr2:54542044 T
T
 C
C
 3 a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
 3 HG01993.hp2
HG02273.hp1
HG02300.hp2
HG01993.hp2
HG02273.hp1
HG02300.hp2
 intron_variant MODIFIER c.148+15478T>C
c.148+15478T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54542044
chr2:54542153 G
G
 A
A
 256 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(253): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0070
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 256 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(253): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+15587G>A
c.148+15587G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54542153
chr2:54542265 C
C
 G
G
 188 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(185): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0010c0034t0001g0002
 188 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(185): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG06807.hp2
NA18906.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.148+15699C>G
c.148+15699C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54542265
chr2:54542366 C
C
 T
T
 15 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(12): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 15 HG01167.hp2
HG01255.hp2
HG02055.hp1
others(12): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
HG06807.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+15800C>T
c.148+15800C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54542366
chr2:54542475 C
C
 T
T
 15 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(12): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 15 HG01167.hp2
HG01255.hp2
HG02055.hp1
others(12): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
HG06807.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+15909C>T
c.148+15909C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54542475
chr2:54542506 C
C
 G
G
 60 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(57): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0008t0026g0364
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+15940C>G
c.148+15940C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54542506
chr2:54543009 C
C
 T
T
 1 a0001c0017t0002g0165
a0001c0017t0002g0165
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.148+16443C>T
c.148+16443C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54543009
chr2:54543110 G
G
 A
A
 43 a0001c0001t0004g0070
a0001c0001t0007g0347
a0001c0004t0004g0068
others(40): Show 
a0001c0001t0004g0070
a0001c0001t0007g0347
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 43 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(40): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03540.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+16544G>A
c.148+16544G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54543110
chr2:54543113 G
G
 A
A
 1 a0001c0001t0005g0203
a0001c0001t0005g0203
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.148+16547G>A
c.148+16547G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54543113
chr2:54543159 C
C
 A
A
 1 a0001c0002t0001g0133
a0001c0002t0001g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.148+16593C>A
c.148+16593C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54543159
chr2:54543602 T
T
 A
A
 2 a0001c0001t0005g0106
a0001c0001t0005g0345
a0001c0001t0005g0106
a0001c0001t0005g0345
 2 HG01496.hp1
HG03927.hp2
HG01496.hp1
HG03927.hp2
 intron_variant MODIFIER c.148+17036T>A
c.148+17036T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54543602
chr2:54543826 T
T
 C
C
 2 a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0253
a0001c0005t0011g0254
 2 HG02572.hp1
HG03209.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.148+17260T>C
c.148+17260T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54543826
chr2:54543844 G
G
 A
A
 2 a0001c0001t0002g0079
a0001c0001t0022g0118
a0001c0001t0002g0079
a0001c0001t0022g0118
 2 NA18968.hp1
NA19002.hp2
NA18968.hp1
NA19002.hp2
 intron_variant MODIFIER c.148+17278G>A
c.148+17278G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54543844
chr2:54544186 G
G
 C
C
 55 a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
others(52): Show 
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+17620G>C
c.148+17620G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54544186
chr2:54544304 A
A
 G
G
 292 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(289): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 292 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(289): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+17738A>G
c.148+17738A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54544304
chr2:54544588 T
T
 C
C
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(288): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+18022T>C
c.148+18022T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54544588
chr2:54544674 T
T
 C
C
 117 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(114): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0009c0022t0051g0078
a0010c0034t0001g0002
 117 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(114): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+18108T>C
c.148+18108T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54544674
chr2:54544677 G
G
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+18111G>A
c.148+18111G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54544677
chr2:54544967 C
C
 T
T
 250 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(247): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0026g0364
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 250 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(247): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+18401C>T
c.148+18401C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54544967
chr2:54545043 T
T
 C
C
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0008t0026g0364
 5 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(2): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.148+18477T>C
c.148+18477T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54545043
chr2:54545138 T
T
 C
C
 290 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(287): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 290 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(287): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+18572T>C
c.148+18572T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54545138
chr2:54545139 G
G
 A
A
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.148+18573G>A
c.148+18573G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54545139
chr2:54545392 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+18826A>G
c.148+18826A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54545392
chr2:54545413 A
A
 G
G
 1 a0001c0013t0015g0263
a0001c0013t0015g0263
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.148+18847A>G
c.148+18847A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54545413
chr2:54545558 C
C
 A
A
 2 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0104
a0001c0001t0014g0105
 2 HG02738.hp2
NA20905.hp2
HG02738.hp2
NA20905.hp2
 intron_variant MODIFIER c.148+18992C>A
c.148+18992C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54545558
chr2:54545812 A
A
 G
G
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.148+19246A>G
c.148+19246A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54545812
chr2:54546020 T
T
 A
A
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.148+19454T>A
c.148+19454T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54546020
chr2:54546489 T
T
 C
C
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.148+19923T>C
c.148+19923T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54546489
chr2:54546618 A
A
 T
T
 290 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(287): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 290 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(287): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+20052A>T
c.148+20052A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54546618
chr2:54546704 T
T
 A
A
 96 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(93): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 96 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(93): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+20138T>A
c.148+20138T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54546704
chr2:54546890 T
T
 TC
TC
 56 a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
others(53): Show 
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 56 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+20328dupC
c.148+20328dupC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54546890
chr2:54546893 C
C
 T
T
 1 a0009c0022t0051g0078
a0009c0022t0051g0078
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.148+20327C>T
c.148+20327C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54546893
chr2:54546958 T
T
 TA
TA
 50 a0001c0001t0004g0070
a0001c0001t0004g0130
a0001c0001t0004g0143
others(47): Show 
a0001c0001t0004g0070
a0001c0001t0004g0130
a0001c0001t0004g0143
a0001c0001t0007g0347
a0001c0001t0014g0097
a0001c0001t0019g0031
a0001c0003t0003g0304
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0008t0005g0244
a0001c0008t0026g0364
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 50 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(47): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02257.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp2
HG03225.hp1
HG03490.hp1
HG03540.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp2
NA19066.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+20408dupA
c.148+20408dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54546958
chr2:54546958 T
T
 TAA
TAA
 36 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0091
others(33): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0142
a0001c0001t0004g0144
a0001c0001t0018g0127
a0001c0001t0050g0242
a0001c0002t0001g0275
a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0205
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 36 HG00438.hp2
HG00609.hp1
HG00735.hp1
others(33): Show 
HG00438.hp2
HG00609.hp1
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01192.hp1
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02615.hp2
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG06807.hp2
NA18522.hp2
NA18979.hp1
NA19001.hp2
NA19043.hp1
NA19054.hp1
NA19065.hp2
NA19079.hp1
NA19088.hp1
NA19091.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+20407_148+2040
others(6): Show 
c.148+20407_148+20408dupAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54546958
chr2:54546958 TA
TA
 T
T
 146 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0017
others(143): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0017
a0001c0001t0002g0095
a0001c0001t0002g0123
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0020g0023
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0004t0004g0218
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 146 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(143): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20752.hp2
 intron_variant MODIFIER c.148+20408delA
c.148+20408delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54546958
chr2:54546971 A
A
 C
C
 1 a0007c0024t0009g0232
a0007c0024t0009g0232
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.148+20405A>C
c.148+20405A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54546971
chr2:54546975 C
C
 A
A
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.148+20409C>A
c.148+20409C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54546975
chr2:54546984 A
A
 G
G
 56 a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
others(53): Show 
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 56 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+20418A>G
c.148+20418A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54546984
chr2:54547261 G
G
 T
T
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.148+20695G>T
c.148+20695G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54547261
chr2:54547580 C
C
 T
T
 29 a0001c0001t0005g0221
a0001c0004t0002g0161
a0001c0005t0008g0041
others(26): Show 
a0001c0001t0005g0221
a0001c0004t0002g0161
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0008c0030t0030g0174
a0009c0022t0051g0078
 29 HG01346.hp2
HG02145.hp2
HG02486.hp2
others(26): Show 
HG01346.hp2
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+21014C>T
c.148+21014C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54547580
chr2:54547585 A
A
 G
G
 16 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(13): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 16 HG01167.hp2
HG01255.hp2
HG02055.hp1
others(13): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+21019A>G
c.148+21019A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54547585
chr2:54547734 TGATAAAA
others(3): Show 
TGATAAAAATA
 T
T
 20 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(17): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 20 HG01346.hp2
HG02145.hp2
HG02486.hp2
others(17): Show 
HG01346.hp2
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+21170_148+2117
others(14): Show 
c.148+21170_148+21179delATAAAAATAG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54547734
chr2:54547915 G
G
 A
A
 170 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(167): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0070
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0097
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0010c0034t0001g0002
 170 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(167): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG06807.hp2
NA18522.hp2
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+21349G>A
c.148+21349G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54547915
chr2:54547925 C
C
 T
T
 3 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
 3 HG02145.hp2
HG02615.hp1
HG03139.hp1
HG02145.hp2
HG02615.hp1
HG03139.hp1
 intron_variant MODIFIER c.148+21359C>T
c.148+21359C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54547925
chr2:54548001 G
G
 C
C
 4 a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
others(1): Show 
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0224
 4 HG00558.hp1
NA18971.hp2
NA18978.hp1
others(1): Show 
HG00558.hp1
NA18971.hp2
NA18978.hp1
NA19076.hp1
 intron_variant MODIFIER c.148+21435G>C
c.148+21435G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54548001
chr2:54548059 C
C
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+21493C>G
c.148+21493C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54548059
chr2:54548060 A
A
 G
G
 96 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(93): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0218
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 96 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(93): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+21494A>G
c.148+21494A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54548060
chr2:54548085 G
G
 A
A
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.148+21519G>A
c.148+21519G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54548085
chr2:54548480 G
G
 A
A
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.148+21914G>A
c.148+21914G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54548480
chr2:54548672 G
G
 A
A
 369 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(366): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0322
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0353
a0001c0001t0005g0354
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 369 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(366): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.148+22106G>A
c.148+22106G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54548672
chr2:54548895 C
C
 T
T
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.148+22329C>T
c.148+22329C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54548895
chr2:54548990 A
A
 G
G
 289 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(286): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 289 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(286): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+22424A>G
c.148+22424A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54548990
chr2:54549088 G
G
 T
T
 1 a0001c0007t0001g0192
a0001c0007t0001g0192
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.148+22522G>T
c.148+22522G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54549088
chr2:54549162 G
G
 A
A
 6 a0001c0001t0004g0091
a0001c0003t0003g0304
a0001c0012t0016g0026
others(3): Show 
a0001c0001t0004g0091
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 6 HG01884.hp2
HG02809.hp2
HG02895.hp2
others(3): Show 
HG01884.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
NA19091.hp1
 intron_variant MODIFIER c.148+22596G>A
c.148+22596G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54549162
chr2:54549190 G
G
 C
C
 4 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0009c0022t0051g0078
 4 HG03654.hp1
HG03688.hp1
HG03942.hp2
others(1): Show 
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+22624G>C
c.148+22624G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54549190
chr2:54549289 C
C
 CA
CA
 18 a0001c0001t0002g0350
a0001c0001t0005g0309
a0001c0001t0010g0238
others(15): Show 
a0001c0001t0002g0350
a0001c0001t0005g0309
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0002t0001g0275
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 18 HG00140.hp2
HG00735.hp1
HG01106.hp2
others(15): Show 
HG00140.hp2
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02970.hp1
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03942.hp2
HG06807.hp2
NA19000.hp1
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.148+22743dupA
c.148+22743dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54549289
chr2:54549289 C
C
 CAA
CAA
 16 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(13): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
 16 HG01167.hp2
HG01255.hp2
HG01943.hp1
others(13): Show 
HG01167.hp2
HG01255.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA20129.hp2
 intron_variant MODIFIER c.148+22742_148+2274
others(6): Show 
c.148+22742_148+22743dupAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54549289
chr2:54549289 CA
CA
 C
C
 242 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0085
others(239): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0085
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 242 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(239): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+22743delA
c.148+22743delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54549289
chr2:54549490 T
T
 C
C
 263 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(260): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0026g0364
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 263 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(260): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+22924T>C
c.148+22924T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54549490
chr2:54549664 C
C
 T
T
 2 a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0098
a0001c0004t0004g0132
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.148+23098C>T
c.148+23098C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54549664
chr2:54549797 A
A
 C
C
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.148+23231A>C
c.148+23231A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54549797
chr2:54549856 C
C
 G
G
 43 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(40): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 43 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(40): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18992.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+23290C>G
c.148+23290C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54549856
chr2:54550045 T
T
 C
C
 1 a0001c0014t0001g0029
a0001c0014t0001g0029
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.148+23479T>C
c.148+23479T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550045
chr2:54550097 G
G
 T
T
 1 a0001c0003t0003g0366
a0001c0003t0003g0366
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.148+23531G>T
c.148+23531G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550097
chr2:54550214 C
C
 T
T
 1 a0001c0001t0002g0033
a0001c0001t0002g0033
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.148+23648C>T
c.148+23648C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550214
chr2:54550219 C
C
 G
G
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.148+23653C>G
c.148+23653C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550219
chr2:54550417 G
G
 T
T
 1 a0001c0013t0015g0263
a0001c0013t0015g0263
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.148+23851G>T
c.148+23851G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550417
chr2:54550422 A
A
 G
G
 1 a0001c0002t0001g0274
a0001c0002t0001g0274
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.148+23856A>G
c.148+23856A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550422
chr2:54550439 T
T
 C
C
 275 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(272): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 275 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(272): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+23873T>C
c.148+23873T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550439
chr2:54550680 GTACT
GTACT
 G
G
 36 a0001c0001t0005g0221
a0001c0005t0003g0004
a0001c0005t0003g0005
others(33): Show 
a0001c0001t0005g0221
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0008c0030t0030g0174
a0009c0022t0051g0078
 36 HG01346.hp2
HG02145.hp2
HG02486.hp2
others(33): Show 
HG01346.hp2
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+24119_148+2412
others(8): Show 
c.148+24119_148+24122delTACT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54550680
chr2:54550720 C
C
 G
G
 5 a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
others(2): Show 
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
 5 HG00140.hp2
HG00280.hp1
HG01168.hp2
others(2): Show 
HG00140.hp2
HG00280.hp1
HG01168.hp2
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.148+24154C>G
c.148+24154C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550720
chr2:54550783 T
T
 C
C
 36 a0001c0001t0005g0221
a0001c0005t0003g0004
a0001c0005t0003g0005
others(33): Show 
a0001c0001t0005g0221
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0008c0030t0030g0174
a0009c0022t0051g0078
 36 HG01346.hp2
HG02145.hp2
HG02486.hp2
others(33): Show 
HG01346.hp2
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+24217T>C
c.148+24217T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550783
chr2:54550886 G
G
 A
A
 5 a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
others(2): Show 
a0001c0001t0005g0353
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0041g0247
 5 HG01261.hp1
HG02738.hp2
HG03017.hp1
others(2): Show 
HG01261.hp1
HG02738.hp2
HG03017.hp1
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.148+24320G>A
c.148+24320G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54550886
chr2:54551297 A
A
 G
G
 4 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(1): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0005t0031g0187
 4 HG02055.hp2
HG02280.hp2
HG02818.hp1
others(1): Show 
HG02055.hp2
HG02280.hp2
HG02818.hp1
HG03540.hp2
 intron_variant MODIFIER c.148+24731A>G
c.148+24731A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54551297
chr2:54551318 T
T
 G
G
 4 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
others(1): Show 
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0009c0022t0051g0078
 4 HG03654.hp1
HG03688.hp1
HG03942.hp2
others(1): Show 
HG03654.hp1
HG03688.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+24752T>G
c.148+24752T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54551318
chr2:54551417 T
T
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+24851T>A
c.148+24851T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54551417
chr2:54551437 T
T
 C
C
 5 a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
others(2): Show 
a0001c0003t0003g0304
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 5 HG01884.hp2
HG02809.hp2
HG02895.hp2
others(2): Show 
HG01884.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.148+24871T>C
c.148+24871T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54551437
chr2:54551453 T
T
 C
C
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.148+24887T>C
c.148+24887T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54551453
chr2:54551475 C
C
 T
T
 2 a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0256
a0001c0003t0003g0257
 2 HG02630.hp2
HG02897.hp2
HG02630.hp2
HG02897.hp2
 intron_variant MODIFIER c.148+24909C>T
c.148+24909C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54551475
chr2:54551573 C
C
 T
T
 1 a0001c0001t0041g0247
a0001c0001t0041g0247
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.148+25007C>T
c.148+25007C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54551573
chr2:54551833 T
T
 C
C
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.148+25267T>C
c.148+25267T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54551833
chr2:54552075 C
C
 T
T
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.148+25509C>T
c.148+25509C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552075
chr2:54552088 A
A
 G
G
 59 a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
others(56): Show 
a0001c0001t0002g0094
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0009c0022t0051g0078
 59 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(56): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03490.hp1
HG03540.hp1
HG03688.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19054.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.148+25522A>G
c.148+25522A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552088
chr2:54552097 T
T
 C
C
 289 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(286): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 289 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(286): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+25531T>C
c.148+25531T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552097
chr2:54552141 T
T
 G
G
 289 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(286): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 289 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(286): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+25575T>G
c.148+25575T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552141
chr2:54552413 C
C
 G
G
 1 a0001c0023t0005g0283
a0001c0023t0005g0283
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.148+25847C>G
c.148+25847C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552413
chr2:54552465 CT
CT
 C
C
 209 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(206): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0029g0100
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 209 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(206): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+25910delT
c.148+25910delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54552465
chr2:54552491 C
C
 G
G
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.148+25925C>G
c.148+25925C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552491
chr2:54552518 G
G
 A
A
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.148+25952G>A
c.148+25952G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552518
chr2:54552551 G
G
 T
T
 2 a0001c0002t0001g0186
a0005c0028t0001g0006
a0001c0002t0001g0186
a0005c0028t0001g0006
 2 HG02080.hp2
NA18962.hp1
HG02080.hp2
NA18962.hp1
 intron_variant MODIFIER c.148+25985G>T
c.148+25985G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552551
chr2:54552563 TCTC
TCTC
 T
T
 275 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(272): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 275 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(272): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+26000_148+2600
others(7): Show 
c.148+26000_148+26002delCCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54552563
chr2:54552628 T
T
 C
C
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.148+26062T>C
c.148+26062T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552628
chr2:54552721 C
C
 T
T
 1 a0001c0005t0008g0368
a0001c0005t0008g0368
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.148+26155C>T
c.148+26155C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552721
chr2:54552788 G
G
 C
C
 2 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0001t0019g0241
a0001c0001t0050g0242
 2 HG02280.hp2
NA21309.hp1
HG02280.hp2
NA21309.hp1
 intron_variant MODIFIER c.148+26222G>C
c.148+26222G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552788
chr2:54552824 T
T
 C
C
 16 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(13): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 16 HG01167.hp2
HG01255.hp2
HG02055.hp1
others(13): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+26258T>C
c.148+26258T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54552824
chr2:54553066 G
G
 A
A
 60 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(57): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+26500G>A
c.148+26500G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553066
chr2:54553157 G
G
 A
A
 1 a0001c0001t0002g0095
a0001c0001t0002g0095
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.148+26591G>A
c.148+26591G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553157
chr2:54553162 G
G
 A
A
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.148+26596G>A
c.148+26596G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553162
chr2:54553416 T
T
 C
C
 288 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(285): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 288 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(285): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+26850T>C
c.148+26850T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553416
chr2:54553538 C
C
 CTGTGG
CTGTGG
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0008t0026g0364
 5 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(2): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
 intron_variant MODIFIER c.148+26974_148+2697
others(9): Show 
c.148+26974_148+26978dupGTGGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54553538
chr2:54553641 A
A
 T
T
 14 a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
others(11): Show 
a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0008c0030t0030g0174
 14 HG02615.hp2
HG02630.hp1
HG02717.hp2
others(11): Show 
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03516.hp1
HG03516.hp2
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+27075A>T
c.148+27075A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553641
chr2:54553737 C
C
 G
G
 60 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(57): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+27171C>G
c.148+27171C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553737
chr2:54553784 T
T
 G
G
 4 a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
others(1): Show 
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
 4 HG02559.hp1
HG02572.hp1
HG03209.hp2
others(1): Show 
HG02559.hp1
HG02572.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.148+27218T>G
c.148+27218T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553784
chr2:54553786 T
T
 G
G
 1 a0001c0008t0026g0365
a0001c0008t0026g0365
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+27220T>G
c.148+27220T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553786
chr2:54553859 G
G
 A
A
 1 a0004c0032t0004g0329
a0004c0032t0004g0329
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.148+27293G>A
c.148+27293G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54553859
chr2:54554070 A
A
 G
G
 21 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(18): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0031g0187
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0005g0045
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 21 HG01346.hp2
HG02145.hp2
HG02486.hp2
others(18): Show 
HG01346.hp2
HG02145.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+27504A>G
c.148+27504A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54554070
chr2:54554437 G
G
 A
A
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.148+27871G>A
c.148+27871G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54554437
chr2:54554464 T
T
 G
G
 1 a0001c0004t0004g0134
a0001c0004t0004g0134
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.148+27898T>G
c.148+27898T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54554464
chr2:54554613 C
C
 T
T
 1 a0001c0002t0006g0148
a0001c0002t0006g0148
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.148+28047C>T
c.148+28047C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54554613
chr2:54554664 C
C
 T
T
 15 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(12): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 15 HG01167.hp2
HG01255.hp2
HG02055.hp1
others(12): Show 
HG01167.hp2
HG01255.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02451.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
HG06807.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+28098C>T
c.148+28098C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54554664
chr2:54554751 T
T
 A
A
 1 a0001c0001t0005g0106
a0001c0001t0005g0106
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.148+28185T>A
c.148+28185T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54554751
chr2:54555213 C
C
 T
T
 1 a0001c0004t0004g0202
a0001c0004t0004g0202
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.148+28647C>T
c.148+28647C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54555213
chr2:54555377 C
C
 T
T
 1 a0001c0002t0001g0124
a0001c0002t0001g0124
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.148+28811C>T
c.148+28811C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54555377
chr2:54555554 G
G
 A
A
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.148+28988G>A
c.148+28988G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54555554
chr2:54555647 G
G
 C
C
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.148+29081G>C
c.148+29081G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54555647
chr2:54555766 T
T
 C
C
 14 a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
others(11): Show 
a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0008c0030t0030g0174
 14 HG02615.hp2
HG02630.hp1
HG02717.hp2
others(11): Show 
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03516.hp1
HG03516.hp2
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+29200T>C
c.148+29200T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54555766
chr2:54555771 G
G
 A
A
 275 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
others(272): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 275 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(272): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+29205G>A
c.148+29205G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54555771
chr2:54555842 T
T
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+29276T>A
c.148+29276T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54555842
chr2:54556052 C
C
 T
T
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+29486C>T
c.148+29486C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54556052
chr2:54556160 C
C
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+29594C>G
c.148+29594C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54556160
chr2:54556245 A
A
 T
T
 18 a0001c0002t0001g0275
a0001c0007t0013g0043
a0001c0007t0013g0044
others(15): Show 
a0001c0002t0001g0275
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 18 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(15): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02145.hp2
HG02559.hp2
HG02615.hp1
HG02976.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+29679A>T
c.148+29679A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54556245
chr2:54556273 C
C
 G
G
 1 a0001c0002t0001g0331
a0001c0002t0001g0331
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.148+29707C>G
c.148+29707C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54556273
chr2:54556301 A
A
 G
G
 13 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(10): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0269
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0031g0187
 13 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(10): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+29735A>G
c.148+29735A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54556301
chr2:54556356 T
T
 C
C
 2 a0001c0004t0004g0069
a0001c0004t0004g0266
a0001c0004t0004g0069
a0001c0004t0004g0266
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.148+29790T>C
c.148+29790T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54556356
chr2:54556466 G
G
 A
A
 10 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
others(7): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0008g0176
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 10 HG02055.hp1
HG02055.hp2
HG02451.hp1
others(7): Show 
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03453.hp1
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+29900G>A
c.148+29900G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54556466
chr2:54556656 C
C
 CTT
CTT
 291 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(288): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 291 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(288): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+30091_148+3009
others(6): Show 
c.148+30091_148+30092dupTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54556656
chr2:54556971 T
T
 C
C
 293 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
others(290): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0094
a0001c0001t0002g0123
a0001c0001t0002g0225
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 293 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(290): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+30405T>C
c.148+30405T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54556971
chr2:54557202 A
A
 G
G
 1 a0001c0004t0007g0173
a0001c0004t0007g0173
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.148+30636A>G
c.148+30636A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54557202
chr2:54557279 A
A
 G
G
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.148+30713A>G
c.148+30713A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54557279
chr2:54557581 G
G
 C
C
 1 a0001c0003t0009g0236
a0001c0003t0009g0236
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.148+31015G>C
c.148+31015G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54557581
chr2:54557583 G
G
 C
C
 2 a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0264
a0001c0004t0004g0265
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.148+31017G>C
c.148+31017G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54557583
chr2:54557728 C
C
 T
T
 1 a0001c0002t0006g0276
a0001c0002t0006g0276
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.148+31162C>T
c.148+31162C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54557728
chr2:54557793 G
G
 C
C
 11 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
others(8): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 11 HG02055.hp1
HG02055.hp2
HG02451.hp1
others(8): Show 
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
HG03540.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+31227G>C
c.148+31227G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54557793
chr2:54557811 T
T
 G
G
 3 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
 3 NA18944.hp1
NA18950.hp2
NA18963.hp2
NA18944.hp1
NA18950.hp2
NA18963.hp2
 intron_variant MODIFIER c.148+31245T>G
c.148+31245T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54557811
chr2:54558356 A
A
 G
G
 40 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(37): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 40 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.148+31790A>G
c.148+31790A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558356
chr2:54558487 C
C
 T
T
 15 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(12): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 15 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(12): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+31921C>T
c.148+31921C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558487
chr2:54558561 C
C
 G
G
 3 a0001c0001t0003g0059
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0001t0003g0059
a0001c0018t0007g0112
a0001c0018t0042g0027
 3 HG01167.hp2
HG02559.hp2
HG02976.hp2
HG01167.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.148+31995C>G
c.148+31995C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558561
chr2:54558568 T
T
 C
C
 65 a0001c0001t0002g0210
a0001c0001t0003g0060
a0001c0001t0003g0061
others(62): Show 
a0001c0001t0002g0210
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 65 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.148+32002T>C
c.148+32002T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558568
chr2:54558590 C
C
 T
T
 15 a0001c0001t0010g0238
a0001c0005t0003g0047
a0001c0005t0003g0181
others(12): Show 
a0001c0001t0010g0238
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 15 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(12): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp1
 intron_variant MODIFIER c.148+32024C>T
c.148+32024C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558590
chr2:54558613 C
C
 T
T
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.148+32047C>T
c.148+32047C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558613
chr2:54558708 T
T
 C
C
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.148+32142T>C
c.148+32142T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558708
chr2:54558759 G
G
 C
C
 1 a0002c0006t0003g0200
a0002c0006t0003g0200
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.148+32193G>C
c.148+32193G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558759
chr2:54558765 T
T
 C
C
 1 a0001c0013t0015g0263
a0001c0013t0015g0263
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.148+32199T>C
c.148+32199T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558765
chr2:54558928 A
A
 T
T
 11 a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
others(8): Show 
a0001c0002t0001g0275
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 11 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(8): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.148+32362A>T
c.148+32362A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54558928
chr2:54559086 G
G
 GT
GT
 4 a0001c0001t0029g0100
a0001c0014t0001g0013
a0001c0014t0001g0029
others(1): Show 
a0001c0001t0029g0100
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
 4 HG00558.hp2
NA18977.hp1
NA18985.hp2
others(1): Show 
HG00558.hp2
NA18977.hp1
NA18985.hp2
NA19058.hp2
 intron_variant MODIFIER c.148+32521dupT
c.148+32521dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54559086
chr2:54559287 C
C
 T
T
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.148+32721C>T
c.148+32721C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54559287
chr2:54559354 T
T
 C
C
 284 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(281): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 284 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(281): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+32788T>C
c.148+32788T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54559354
chr2:54559477 C
C
 T
T
 1 a0001c0001t0005g0354
a0001c0001t0005g0354
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.148+32911C>T
c.148+32911C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54559477
chr2:54559478 C
C
 G
G
 284 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0249
others(281): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 284 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(281): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+32912C>G
c.148+32912C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54559478
chr2:54559540 A
A
 G
G
 129 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0003g0059
others(126): Show 
a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0044g0297
a0001c0002t0001g0275
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+32974A>G
c.148+32974A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54559540
chr2:54559657 A
A
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.148+33091A>G
c.148+33091A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54559657
chr2:54559675 G
G
 C
C
 1 a0001c0013t0015g0263
a0001c0013t0015g0263
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.148+33109G>C
c.148+33109G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54559675
chr2:54559898 T
T
 C
C
 1 a0001c0002t0001g0287
a0001c0002t0001g0287
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.148+33332T>C
c.148+33332T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54559898
chr2:54560054 G
G
 A
A
 8 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(5): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
 8 HG02615.hp2
HG03041.hp2
HG03130.hp2
others(5): Show 
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+33488G>A
c.148+33488G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560054
chr2:54560156 C
C
 T
T
 3 a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
 3 HG03490.hp2
HG03492.hp1
HG03831.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp1
 intron_variant MODIFIER c.148+33590C>T
c.148+33590C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560156
chr2:54560187 T
T
 TG
TG
 89 a0001c0001t0002g0007
a0001c0001t0002g0090
a0001c0001t0002g0094
others(86): Show 
a0001c0001t0002g0007
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0217
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0002t0001g0186
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0153
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0152
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
 89 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(86): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.148+33630dupG
c.148+33630dupG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54560187
chr2:54560203 T
T
 C
C
 137 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(134): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 137 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(134): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18979.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.148+33637T>C
c.148+33637T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560203
chr2:54560213 T
T
 C
C
 12 a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0019g0031
others(9): Show 
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
 12 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(9): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02622.hp2
HG02970.hp1
HG03540.hp1
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+33647T>C
c.148+33647T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560213
chr2:54560289 C
C
 T
T
 2 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0018g0180
a0001c0001t0018g0303
 2 HG02055.hp2
HG02818.hp1
HG02055.hp2
HG02818.hp1
 intron_variant MODIFIER c.148+33723C>T
c.148+33723C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560289
chr2:54560317 A
A
 G
G
 27 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(24): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0010g0238
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 27 HG01167.hp2
HG01255.hp2
HG01884.hp1
others(24): Show 
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG01884.hp2
HG02109.hp1
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.148+33751A>G
c.148+33751A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560317
chr2:54560376 A
A
 C
C
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+33810A>C
c.148+33810A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560376
chr2:54560455 C
C
 G
G
 65 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0012
others(62): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0004g0213
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0007g0019
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0040g0300
a0001c0002t0001g0086
a0001c0004t0004g0107
a0001c0004t0004g0358
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0020t0002g0034
 65 HG00408.hp2
HG00423.hp2
HG00558.hp1
others(62): Show 
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00735.hp2
HG01255.hp1
HG01346.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02040.hp2
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG03942.hp1
HG04184.hp2
HG04228.hp2
NA18941.hp1
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19010.hp1
NA19012.hp1
NA19054.hp2
NA19058.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp2
NA19076.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp2
NA20752.hp1
 intron_variant MODIFIER c.148+33889C>G
c.148+33889C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560455
chr2:54560492 A
A
 G
G
 1 a0001c0008t0005g0045
a0001c0008t0005g0045
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.148+33926A>G
c.148+33926A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560492
chr2:54560531 C
C
 A
A
 1 a0001c0004t0004g0317
a0001c0004t0004g0317
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.148+33965C>A
c.148+33965C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560531
chr2:54560704 G
G
 A
A
 2 a0001c0004t0004g0069
a0001c0004t0004g0266
a0001c0004t0004g0069
a0001c0004t0004g0266
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.148+34138G>A
c.148+34138G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560704
chr2:54560741 T
T
 G
G
 1 a0001c0001t0002g0128
a0001c0001t0002g0128
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.148+34175T>G
c.148+34175T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560741
chr2:54560867 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+34301A>G
c.148+34301A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560867
chr2:54560922 C
C
 G
G
 4 a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
others(1): Show 
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
 4 HG02071.hp1
HG02135.hp1
HG02155.hp1
others(1): Show 
HG02071.hp1
HG02135.hp1
HG02155.hp1
NA18951.hp1
 intron_variant MODIFIER c.148+34356C>G
c.148+34356C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560922
chr2:54560987 C
C
 A
A
 1 a0001c0008t0026g0365
a0001c0008t0026g0365
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+34421C>A
c.148+34421C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54560987
chr2:54561086 C
C
 T
T
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.148+34520C>T
c.148+34520C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561086
chr2:54561139 T
T
 C
C
 114 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(111): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 114 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(111): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+34573T>C
c.148+34573T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561139
chr2:54561178 G
G
 T
T
 369 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(366): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0322
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0353
a0001c0001t0005g0354
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 369 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(366): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.148+34612G>T
c.148+34612G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561178
chr2:54561380 C
C
 T
T
 1 a0001c0001t0005g0322
a0001c0001t0005g0322
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.148+34814C>T
c.148+34814C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561380
chr2:54561442 G
G
 GTT
GTT
 286 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(283): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 286 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(283): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+34878_148+3487
others(6): Show 
c.148+34878_148+34879dupTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54561442
chr2:54561459 T
T
 G
G
 2 a0001c0001t0014g0097
a0009c0022t0051g0078
a0001c0001t0014g0097
a0009c0022t0051g0078
 2 HG03490.hp1
HG03688.hp1
HG03490.hp1
HG03688.hp1
 intron_variant MODIFIER c.148+34893T>G
c.148+34893T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561459
chr2:54561497 T
T
 C
C
 1 a0001c0001t0002g0167
a0001c0001t0002g0167
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.148+34931T>C
c.148+34931T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561497
chr2:54561643 T
T
 C
C
 6 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+35077T>C
c.148+35077T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561643
chr2:54561672 T
T
 A
A
 9 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(6): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0016t0005g0064
a0001c0016t0005g0099
 9 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+35106T>A
c.148+35106T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561672
chr2:54561688 GATATT
GATATT
 G
G
 9 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(6): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0016t0005g0064
a0001c0016t0005g0099
 9 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+35126_148+3513
others(9): Show 
c.148+35126_148+35130delTTATA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54561688
chr2:54561707 T
T
 TTAAATAT
others(39): Show 
TTAAATATAGTTATATATAAATATAAATCGAGTTATATATTTATATA
 12 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(9): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0034g0003
a0001c0019t0012g0246
a0001c0019t0012g0252
 12 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(9): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+35160_148+3520
others(50): Show 
c.148+35160_148+35205dupAATATAAATCGAGTTATATATTTATA
TATAAATATAGTTATATATA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54561707
chr2:54561733 A
A
 G
G
 9 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(6): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0016t0005g0064
a0001c0016t0005g0099
 9 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+35167A>G
c.148+35167A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561733
chr2:54561779 A
A
 G
G
 14 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
others(11): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 14 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(11): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+35213A>G
c.148+35213A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561779
chr2:54561802 T
T
 C
C
 1 a0001c0002t0006g0314
a0001c0002t0006g0314
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.148+35236T>C
c.148+35236T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561802
chr2:54561879 T
T
 A
A
 1 a0001c0002t0006g0299
a0001c0002t0006g0299
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.148+35313T>A
c.148+35313T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561879
chr2:54561879 T
T
 TA
TA
 171 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(168): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 171 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(168): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18979.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.148+35323dupA
c.148+35323dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54561879
chr2:54561879 T
T
 TAA
TAA
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0004t0004g0195
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+35322_148+3532
others(6): Show 
c.148+35322_148+35323dupAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54561879
chr2:54561890 C
C
 A
A
 4 a0001c0001t0002g0033
a0001c0001t0007g0019
a0001c0001t0020g0022
others(1): Show 
a0001c0001t0002g0033
a0001c0001t0007g0019
a0001c0001t0020g0022
a0001c0020t0002g0034
 4 HG00423.hp2
HG02040.hp2
HG02165.hp2
others(1): Show 
HG00423.hp2
HG02040.hp2
HG02165.hp2
NA18974.hp2
 intron_variant MODIFIER c.148+35324C>A
c.148+35324C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54561890
chr2:54562010 A
A
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+35444A>C
c.148+35444A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562010
chr2:54562014 C
C
 A
A
 16 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(13): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0031g0187
 16 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(13): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.148+35448C>A
c.148+35448C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562014
chr2:54562072 C
C
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+35506C>G
c.148+35506C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562072
chr2:54562094 G
G
 A
A
 1 a0001c0021t0001g0197
a0001c0021t0001g0197
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.148+35528G>A
c.148+35528G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562094
chr2:54562095 T
T
 C
C
 114 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(111): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 114 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(111): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.148+35529T>C
c.148+35529T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562095
chr2:54562253 A
A
 C
C
 1 a0001c0001t0039g0058
a0001c0001t0039g0058
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.148+35687A>C
c.148+35687A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562253
chr2:54562253 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.148+35687A>G
c.148+35687A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562253
chr2:54562287 A
A
 T
T
 1 a0001c0012t0016g0135
a0001c0012t0016g0135
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.148+35721A>T
c.148+35721A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562287
chr2:54562371 C
C
 T
T
 4 a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
others(1): Show 
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
 4 NA18977.hp2
NA18983.hp2
NA19000.hp1
others(1): Show 
NA18977.hp2
NA18983.hp2
NA19000.hp1
NA19010.hp1
 intron_variant MODIFIER c.148+35805C>T
c.148+35805C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562371
chr2:54562406 T
T
 C
C
 123 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(120): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 123 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(120): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+35840T>C
c.148+35840T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562406
chr2:54562469 A
A
 G
G
 9 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(6): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0016t0005g0064
a0001c0016t0005g0099
 9 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.148+35903A>G
c.148+35903A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562469
chr2:54562527 C
C
 CTTTTTCT
others(8): Show 
CTTTTTCTTTTTTTCT
 1 a0001c0005t0008g0050
a0001c0005t0008g0050
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.148+35974_148+3597
others(19): Show 
c.148+35974_148+35975insCTTTTTTCTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562527
chr2:54562533 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTCTTTTT
 1 a0001c0002t0006g0299
a0001c0002t0006g0299
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.148+35974_148+3597
others(17): Show 
c.148+35974_148+35975insCTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562533
chr2:54562533 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTCTTTTTT
 97 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0005g0221
others(94): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0005g0221
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0251
a0001c0003t0003g0320
a0001c0004t0004g0096
a0001c0004t0007g0055
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0029t0007g0290
a0005c0028t0001g0006
a0010c0034t0001g0002
 97 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(94): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01175.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02698.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18983.hp1
NA18986.hp2
NA18989.hp2
NA18993.hp2
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.148+35974_148+3597
others(18): Show 
c.148+35974_148+35975insCTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562533
chr2:54562533 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTCTTTTTTT
 143 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(140): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0115
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0006g0089
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 143 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(140): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18957.hp1
NA18964.hp2
NA18977.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18994.hp1
NA18998.hp1
NA19000.hp2
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19082.hp2
NA19083.hp2
NA19086.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+35974_148+3597
others(19): Show 
c.148+35974_148+35975insCTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562533
chr2:54562533 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTCTTTTTTTT
 28 a0001c0001t0007g0196
a0001c0003t0003g0257
a0001c0003t0003g0366
others(25): Show 
a0001c0001t0007g0196
a0001c0003t0003g0257
a0001c0003t0003g0366
a0001c0005t0008g0056
a0001c0005t0012g0369
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 28 HG01346.hp2
HG02055.hp1
HG02258.hp1
others(25): Show 
HG01346.hp2
HG02055.hp1
HG02258.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02809.hp1
HG02965.hp2
HG02976.hp1
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19030.hp2
NA19084.hp2
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.148+35974_148+3597
others(20): Show 
c.148+35974_148+35975insCTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562533
chr2:54562533 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTCTTTTTTTTT
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.148+35974_148+3597
others(21): Show 
c.148+35974_148+35975insCTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562533
chr2:54562533 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTCTTTTTTTTTT
 2 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0018g0180
a0001c0001t0018g0303
 2 HG02055.hp2
HG02818.hp1
HG02055.hp2
HG02818.hp1
 intron_variant MODIFIER c.148+35974_148+3597
others(22): Show 
c.148+35974_148+35975insCTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562533
chr2:54562669 T
T
 C
C
 1 a0001c0001t0002g0128
a0001c0001t0002g0128
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.148+36103T>C
c.148+36103T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562669
chr2:54562696 T
T
 TTG
TTG
 70 a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0015
others(67): Show 
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0015
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0163
a0001c0001t0002g0169
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0217
a0001c0001t0002g0225
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0005g0136
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0346
a0001c0001t0005g0353
a0001c0001t0007g0019
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0022g0164
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0050g0242
a0001c0002t0001g0086
a0001c0002t0001g0273
a0001c0002t0001g0310
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0149
a0001c0002t0006g0159
a0001c0002t0006g0314
a0001c0002t0047g0279
a0001c0007t0013g0108
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0020t0002g0034
a0008c0030t0030g0174
a0010c0034t0001g0002
 70 HG00099.hp2
HG00140.hp1
HG00423.hp2
others(67): Show 
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00735.hp2
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02622.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04228.hp2
NA18612.hp2
NA18941.hp1
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18954.hp1
NA18959.hp1
NA18963.hp2
NA18964.hp1
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18990.hp1
NA18992.hp2
NA18998.hp2
NA19000.hp1
NA19012.hp1
NA19054.hp1
NA19055.hp2
NA19058.hp1
NA19074.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp2
NA19090.hp1
NA20752.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.148+36168_148+3616
others(6): Show 
c.148+36168_148+36169dupGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 T
T
 TTGTG
TTGTG
 21 a0001c0001t0004g0213
a0001c0001t0014g0104
a0001c0002t0001g0083
others(18): Show 
a0001c0001t0004g0213
a0001c0001t0014g0104
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0001g0275
a0001c0002t0004g0101
a0001c0003t0009g0227
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0016t0005g0064
a0001c0029t0007g0290
 21 HG00735.hp1
HG01106.hp2
HG01167.hp1
others(18): Show 
HG00735.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02809.hp2
HG02895.hp2
HG03195.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG06807.hp2
NA18612.hp1
NA18941.hp2
NA18986.hp2
NA19010.hp2
NA19068.hp2
NA20905.hp2
 intron_variant MODIFIER c.148+36166_148+3616
others(8): Show 
c.148+36166_148+36169dupGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 T
T
 TTGTGTG
TTGTGTG
 38 a0001c0001t0002g0012
a0001c0001t0002g0017
a0001c0001t0002g0095
others(35): Show 
a0001c0001t0002g0012
a0001c0001t0002g0017
a0001c0001t0002g0095
a0001c0001t0002g0128
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0216
a0001c0001t0002g0224
a0001c0001t0002g0239
a0001c0001t0003g0059
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0018g0127
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0049g0076
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0027g0053
a0001c0005t0012g0370
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0023g0229
a0001c0015t0002g0212
a0001c0016t0005g0099
 38 HG00408.hp2
HG00438.hp2
HG00558.hp1
others(35): Show 
HG00408.hp2
HG00438.hp2
HG00558.hp1
HG00738.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01993.hp2
HG02145.hp2
HG02257.hp2
HG02273.hp1
HG03139.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18906.hp2
NA18952.hp1
NA18956.hp1
NA18969.hp2
NA18979.hp1
NA18982.hp2
NA18985.hp1
NA19001.hp2
NA19002.hp2
NA19043.hp2
NA19062.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.148+36164_148+3616
others(10): Show 
c.148+36164_148+36169dupGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 T
T
 TTGTGTGT
others(1): Show 
TTGTGTGTG
 33 a0001c0001t0002g0021
a0001c0001t0002g0167
a0001c0001t0007g0196
others(30): Show 
a0001c0001t0002g0021
a0001c0001t0002g0167
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0282
a0001c0001t0019g0031
a0001c0001t0044g0297
a0001c0003t0003g0073
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0027g0054
a0001c0003t0036g0361
a0001c0004t0004g0358
a0001c0004t0035g0042
a0001c0005t0003g0005
a0001c0005t0011g0051
a0001c0005t0025g0240
a0001c0011t0003g0171
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0004c0032t0004g0329
a0006c0027t0003g0075
 33 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(30): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02300.hp2
HG02559.hp2
HG02622.hp2
HG02698.hp2
HG02976.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp2
NA18950.hp1
NA18951.hp2
NA18986.hp1
NA18992.hp1
NA19005.hp2
NA19012.hp2
NA19064.hp2
NA19084.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+36162_148+3616
others(12): Show 
c.148+36162_148+36169dupGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 T
T
 TTGTGTGT
others(3): Show 
TTGTGTGTGTG
 57 a0001c0001t0002g0079
a0001c0001t0003g0223
a0001c0001t0004g0070
others(54): Show 
a0001c0001t0002g0079
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0004g0129
a0001c0001t0005g0322
a0001c0001t0007g0347
a0001c0003t0003g0177
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0009g0235
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0007g0055
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0315
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0260
a0001c0011t0003g0228
a0001c0012t0016g0026
a0001c0013t0015g0263
a0001c0025t0003g0352
a0002c0006t0003g0141
a0007c0024t0009g0232
 57 HG00323.hp1
HG00609.hp1
HG00609.hp2
others(54): Show 
HG00323.hp1
HG00609.hp1
HG00609.hp2
HG01071.hp2
HG01081.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG02015.hp2
HG02080.hp1
HG02109.hp2
HG02145.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02683.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03831.hp1
HG04184.hp1
NA18522.hp1
NA18945.hp1
NA18945.hp2
NA18957.hp1
NA18968.hp1
NA18982.hp1
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19030.hp2
NA19056.hp2
NA19067.hp1
NA19083.hp2
NA19086.hp2
NA19240.hp2
 intron_variant MODIFIER c.148+36160_148+3616
others(14): Show 
c.148+36160_148+36169dupGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 T
T
 TTGTGTGT
others(5): Show 
TTGTGTGTGTGTG
 32 a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0010g0238
others(29): Show 
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0003t0003g0008
a0001c0003t0003g0074
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0277
a0001c0004t0007g0057
a0001c0004t0010g0109
a0001c0004t0010g0348
a0001c0005t0003g0004
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0056
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0306
a0001c0013t0015g0259
a0001c0033t0007g0248
a0003c0031t0004g0063
 32 HG00741.hp2
HG01168.hp1
HG01169.hp1
others(29): Show 
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01346.hp2
HG01496.hp2
HG01981.hp1
HG02055.hp1
HG02135.hp2
HG02451.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02818.hp1
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03516.hp1
HG03688.hp2
HG06807.hp1
NA18954.hp2
NA18955.hp1
NA18987.hp2
NA19000.hp2
NA19043.hp1
NA19055.hp1
NA19062.hp2
NA19082.hp2
NA20905.hp1
 intron_variant MODIFIER c.148+36158_148+3616
others(16): Show 
c.148+36158_148+36169dupGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 T
T
 TTGTGTGT
others(7): Show 
TTGTGTGTGTGTGTG
 16 a0001c0001t0014g0105
a0001c0001t0018g0303
a0001c0003t0009g0236
others(13): Show 
a0001c0001t0014g0105
a0001c0001t0018g0303
a0001c0003t0009g0236
a0001c0005t0003g0182
a0001c0005t0011g0253
a0001c0005t0012g0369
a0001c0008t0005g0245
a0001c0012t0016g0135
a0001c0013t0015g0258
a0002c0006t0003g0014
a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
 16 HG02055.hp2
HG02258.hp1
HG02738.hp2
others(13): Show 
HG02055.hp2
HG02258.hp1
HG02738.hp2
HG02965.hp2
HG03041.hp2
HG03209.hp2
HG04228.hp1
NA18906.hp1
NA18940.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19030.hp1
 intron_variant MODIFIER c.148+36156_148+3616
others(18): Show 
c.148+36156_148+36169dupGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 T
T
 TTGTGTGT
others(9): Show 
TTGTGTGTGTGTGTGTG
 9 a0001c0003t0003g0037
a0001c0004t0004g0201
a0001c0004t0010g0175
others(6): Show 
a0001c0003t0003g0037
a0001c0004t0004g0201
a0001c0004t0010g0175
a0001c0005t0003g0181
a0001c0005t0008g0041
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0008t0005g0045
a0002c0006t0003g0152
 9 HG02486.hp2
HG02572.hp1
HG02615.hp1
others(6): Show 
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02818.hp2
HG03098.hp2
HG03225.hp2
HG03927.hp1
NA18940.hp2
NA19090.hp2
 intron_variant MODIFIER c.148+36154_148+3616
others(20): Show 
c.148+36154_148+36169dupGTGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 T
T
 TTGTGTGT
others(11): Show 
TTGTGTGTGTGTGTGTGTG
 3 a0001c0003t0003g0036
a0001c0005t0003g0047
a0001c0005t0011g0038
a0001c0003t0003g0036
a0001c0005t0003g0047
a0001c0005t0011g0038
 3 HG02109.hp1
HG02559.hp1
NA18522.hp2
HG02109.hp1
HG02559.hp1
NA18522.hp2
 intron_variant MODIFIER c.148+36152_148+3616
others(22): Show 
c.148+36152_148+36169dupGTGTGTGTGTGTGTGTGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562696 TTG
TTG
 T
T
 9 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(6): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0330
a0001c0002t0001g0334
a0001c0003t0003g0251
a0001c0003t0003g0366
a0001c0023t0005g0283
a0002c0006t0003g0016
 9 HG01517.hp1
HG02602.hp1
HG02976.hp1
others(6): Show 
HG01517.hp1
HG02602.hp1
HG02976.hp1
HG03041.hp1
NA18983.hp1
NA18993.hp2
NA19074.hp2
NA19076.hp2
NA19082.hp1
 intron_variant MODIFIER c.148+36168_148+3616
others(6): Show 
c.148+36168_148+36169delGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54562696
chr2:54562739 G
G
 A
A
 18 a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
others(15): Show 
a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 18 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(15): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.148+36173G>A
c.148+36173G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562739
chr2:54562758 A
A
 G
G
 13 a0001c0002t0001g0231
a0001c0002t0001g0308
a0001c0002t0001g0310
others(10): Show 
a0001c0002t0001g0231
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0359
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
 13 NA18959.hp2
NA18963.hp1
NA18968.hp2
others(10): Show 
NA18959.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19088.hp2
 intron_variant MODIFIER c.148+36192A>G
c.148+36192A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562758
chr2:54562853 C
C
 T
T
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-36239C>T
c.149-36239C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562853
chr2:54562923 C
C
 T
T
 1 a0001c0007t0001g0081
a0001c0007t0001g0081
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.149-36169C>T
c.149-36169C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562923
chr2:54562993 G
G
 T
T
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.149-36099G>T
c.149-36099G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54562993
chr2:54563061 A
A
 G
G
 9 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(6): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0016t0005g0064
a0001c0016t0005g0099
 9 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-36031A>G
c.149-36031A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563061
chr2:54563140 A
A
 G
G
 1 a0001c0009t0007g0336
a0001c0009t0007g0336
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.149-35952A>G
c.149-35952A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563140
chr2:54563146 A
A
 G
G
 18 a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
others(15): Show 
a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 18 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(15): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-35946A>G
c.149-35946A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563146
chr2:54563178 G
G
 A
A
 9 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(6): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0016t0005g0064
a0001c0016t0005g0099
 9 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-35914G>A
c.149-35914G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563178
chr2:54563240 C
C
 G
G
 1 a0001c0003t0032g0321
a0001c0003t0032g0321
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.149-35852C>G
c.149-35852C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563240
chr2:54563341 G
G
 A
A
 1 a0001c0001t0004g0145
a0001c0001t0004g0145
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.149-35751G>A
c.149-35751G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563341
chr2:54563437 A
A
 G
G
 1 a0001c0001t0005g0341
a0001c0001t0005g0341
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.149-35655A>G
c.149-35655A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563437
chr2:54563461 A
A
 G
G
 86 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(83): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 86 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(83): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-35631A>G
c.149-35631A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563461
chr2:54563593 C
C
 CT
CT
 7 a0001c0001t0002g0007
a0001c0001t0005g0136
a0001c0001t0005g0291
others(4): Show 
a0001c0001t0002g0007
a0001c0001t0005g0136
a0001c0001t0005g0291
a0001c0001t0039g0058
a0001c0005t0003g0181
a0001c0005t0012g0370
a0001c0019t0012g0246
 7 HG00099.hp2
HG01109.hp2
HG02622.hp1
others(4): Show 
HG00099.hp2
HG01109.hp2
HG02622.hp1
HG02622.hp2
HG03225.hp2
NA18612.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.149-35471dupT
c.149-35471dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54563593
chr2:54563593 CT
CT
 C
C
 168 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
others(165): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0353
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0097
a0001c0001t0018g0127
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0002t0001g0086
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0006g0116
a0001c0002t0006g0314
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0005t0008g0041
a0001c0005t0008g0056
a0001c0005t0008g0176
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0020t0002g0034
a0001c0025t0003g0352
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0009c0022t0051g0078
 168 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(165): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00735.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp1
NA18957.hp2
NA18959.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA18998.hp2
NA19001.hp2
NA19002.hp2
NA19005.hp1
NA19010.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.149-35471delT
c.149-35471delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54563593
chr2:54563593 CTT
CTT
 C
C
 84 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0214
others(81): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0214
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0251
a0001c0003t0003g0261
a0001c0004t0004g0166
a0001c0004t0004g0277
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0021t0001g0197
a0001c0033t0007g0248
a0005c0028t0001g0006
a0010c0034t0001g0002
 84 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(81): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18983.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-35472_149-3547
others(6): Show 
c.149-35472_149-35471delTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54563593
chr2:54563593 CTTT
CTTT
 C
C
 49 a0001c0001t0004g0070
a0001c0001t0007g0347
a0001c0001t0014g0104
others(46): Show 
a0001c0001t0004g0070
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0008t0026g0364
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0003c0031t0004g0063
a0004c0032t0004g0329
 49 HG00738.hp1
HG00741.hp2
HG01071.hp2
others(46): Show 
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02080.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19005.hp2
NA19030.hp1
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.149-35473_149-3547
others(7): Show 
c.149-35473_149-35471delTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54563593
chr2:54563635 A
A
 G
G
 273 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(270): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 273 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(270): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-35457A>G
c.149-35457A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563635
chr2:54563643 G
G
 A
A
 2 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0043
a0001c0007t0013g0044
 2 HG02145.hp2
HG03139.hp1
HG02145.hp2
HG03139.hp1
 intron_variant MODIFIER c.149-35449G>A
c.149-35449G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563643
chr2:54563667 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-35425G>A
c.149-35425G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563667
chr2:54563996 C
C
 T
T
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.149-35096C>T
c.149-35096C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54563996
chr2:54564332 T
T
 C
C
 1 a0001c0001t0019g0183
a0001c0001t0019g0183
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.149-34760T>C
c.149-34760T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54564332
chr2:54564455 A
A
 G
G
 6 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-34637A>G
c.149-34637A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54564455
chr2:54564480 G
G
 C
C
 11 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
others(8): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 11 HG02055.hp1
HG02055.hp2
HG02451.hp1
others(8): Show 
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
HG03540.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-34612G>C
c.149-34612G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54564480
chr2:54564550 C
C
 A
A
 65 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(62): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 65 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(62): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
 intron_variant MODIFIER c.149-34542C>A
c.149-34542C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54564550
chr2:54564708 C
C
 T
T
 1 a0001c0003t0003g0292
a0001c0003t0003g0292
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.149-34384C>T
c.149-34384C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54564708
chr2:54564791 G
G
 A
A
 2 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0036
a0001c0003t0003g0037
 2 HG02109.hp1
HG03098.hp2
HG02109.hp1
HG03098.hp2
 intron_variant MODIFIER c.149-34301G>A
c.149-34301G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54564791
chr2:54564967 G
G
 A
A
 5 a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
others(2): Show 
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
 5 HG00140.hp2
HG00280.hp1
HG01168.hp2
others(2): Show 
HG00140.hp2
HG00280.hp1
HG01168.hp2
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.149-34125G>A
c.149-34125G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54564967
chr2:54564973 T
T
 C
C
 284 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(281): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 284 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(281): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-34119T>C
c.149-34119T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54564973
chr2:54565075 A
A
 G
G
 3 a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0179
 3 NA18957.hp2
NA18989.hp1
NA18994.hp2
NA18957.hp2
NA18989.hp1
NA18994.hp2
 intron_variant MODIFIER c.149-34017A>G
c.149-34017A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565075
chr2:54565077 A
A
 C
C
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-34015A>C
c.149-34015A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565077
chr2:54565136 T
T
 C
C
 1 a0001c0019t0012g0252
a0001c0019t0012g0252
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.149-33956T>C
c.149-33956T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565136
chr2:54565218 A
A
 C
C
 20 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(17): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 20 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(17): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02976.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-33874A>C
c.149-33874A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565218
chr2:54565238 G
G
 C
C
 6 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-33854G>C
c.149-33854G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565238
chr2:54565296 A
A
 G
G
 6 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-33796A>G
c.149-33796A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565296
chr2:54565457 G
G
 A
A
 1 a0001c0004t0007g0173
a0001c0004t0007g0173
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.149-33635G>A
c.149-33635G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565457
chr2:54565512 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-33580A>G
c.149-33580A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565512
chr2:54565557 GTGTAGGC
others(8): Show 
GTGTAGGCTCTAAGGA
 G
G
 1 a0001c0001t0014g0097
a0001c0001t0014g0097
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.149-33533_149-3351
others(19): Show 
c.149-33533_149-33519delGTAGGCTCTAAGGAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54565557
chr2:54565581 C
C
 T
T
 6 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-33511C>T
c.149-33511C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565581
chr2:54565592 G
G
 A
A
 5 a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
others(2): Show 
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
 5 HG00140.hp2
HG00280.hp1
HG01168.hp2
others(2): Show 
HG00140.hp2
HG00280.hp1
HG01168.hp2
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.149-33500G>A
c.149-33500G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54565592
chr2:54566109 C
C
 T
T
 2 a0001c0003t0003g0008
a0001c0003t0003g0305
a0001c0003t0003g0008
a0001c0003t0003g0305
 2 HG02970.hp2
HG03098.hp1
HG02970.hp2
HG03098.hp1
 intron_variant MODIFIER c.149-32983C>T
c.149-32983C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566109
chr2:54566123 T
T
 A
A
 1 a0001c0001t0002g0349
a0001c0001t0002g0349
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.149-32969T>A
c.149-32969T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566123
chr2:54566185 CT
CT
 C
C
 192 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(189): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 192 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(189): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-32889delT
c.149-32889delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54566185
chr2:54566185 CTTTTTTT
others(1): Show 
CTTTTTTTT
 C
C
 7 a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
others(4): Show 
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 7 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(4): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.149-32896_149-3288
others(12): Show 
c.149-32896_149-32889delTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54566185
chr2:54566193 T
T
 C
C
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.149-32899T>C
c.149-32899T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566193
chr2:54566215 G
G
 C
C
 36 a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
others(33): Show 
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 36 HG01109.hp2
HG01346.hp2
HG02109.hp2
others(33): Show 
HG01109.hp2
HG01346.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-32877G>C
c.149-32877G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566215
chr2:54566277 C
C
 T
T
 1 a0001c0001t0002g0338
a0001c0001t0002g0338
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.149-32815C>T
c.149-32815C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566277
chr2:54566332 C
C
 T
T
 10 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
others(7): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 10 HG02055.hp1
HG02055.hp2
HG02451.hp1
others(7): Show 
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-32760C>T
c.149-32760C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566332
chr2:54566333 G
G
 A
A
 1 a0001c0002t0001g0312
a0001c0002t0001g0312
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.149-32759G>A
c.149-32759G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566333
chr2:54566342 C
C
 T
T
 1 a0001c0001t0002g0079
a0001c0001t0002g0079
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.149-32750C>T
c.149-32750C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566342
chr2:54566435 C
C
 G
G
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-32657C>G
c.149-32657C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566435
chr2:54566480 G
G
 A
A
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.149-32612G>A
c.149-32612G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566480
chr2:54566487 C
C
 T
T
 3 a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0218
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0218
 3 NA18940.hp2
NA18987.hp2
NA19055.hp1
NA18940.hp2
NA18987.hp2
NA19055.hp1
 intron_variant MODIFIER c.149-32605C>T
c.149-32605C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566487
chr2:54566504 T
T
 C
C
 2 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0104
a0001c0001t0014g0105
 2 HG02738.hp2
NA20905.hp2
HG02738.hp2
NA20905.hp2
 intron_variant MODIFIER c.149-32588T>C
c.149-32588T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566504
chr2:54566536 T
T
 A
A
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-32556T>A
c.149-32556T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566536
chr2:54566680 A
A
 C
C
 59 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(56): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 59 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(56): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-32412A>C
c.149-32412A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566680
chr2:54566723 C
C
 T
T
 1 a0001c0001t0002g0338
a0001c0001t0002g0338
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.149-32369C>T
c.149-32369C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566723
chr2:54566788 G
G
 A
A
 1 a0001c0029t0007g0290
a0001c0029t0007g0290
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-32304G>A
c.149-32304G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566788
chr2:54566809 C
C
 G
G
 1 a0001c0002t0001g0077
a0001c0002t0001g0077
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.149-32283C>G
c.149-32283C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566809
chr2:54566855 T
T
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-32237T>C
c.149-32237T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566855
chr2:54566898 A
A
 G
G
 1 a0001c0002t0001g0331
a0001c0002t0001g0331
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.149-32194A>G
c.149-32194A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566898
chr2:54566955 C
C
 G
G
 7 a0001c0001t0007g0347
a0001c0004t0004g0068
a0001c0004t0004g0071
others(4): Show 
a0001c0001t0007g0347
a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 7 HG02080.hp1
NA18945.hp2
NA18957.hp1
others(4): Show 
HG02080.hp1
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19083.hp2
 intron_variant MODIFIER c.149-32137C>G
c.149-32137C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54566955
chr2:54567113 C
C
 T
T
 2 a0001c0002t0001g0115
a0001c0002t0006g0089
a0001c0002t0001g0115
a0001c0002t0006g0089
 2 NA18964.hp2
NA18987.hp1
NA18964.hp2
NA18987.hp1
 intron_variant MODIFIER c.149-31979C>T
c.149-31979C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567113
chr2:54567163 G
G
 C
C
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.149-31929G>C
c.149-31929G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567163
chr2:54567186 T
T
 A
A
 1 a0001c0002t0006g0276
a0001c0002t0006g0276
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.149-31906T>A
c.149-31906T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567186
chr2:54567276 G
G
 A
A
 66 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(63): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 66 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-31816G>A
c.149-31816G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567276
chr2:54567309 A
A
 G
G
 1 a0001c0004t0004g0317
a0001c0004t0004g0317
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.149-31783A>G
c.149-31783A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567309
chr2:54567426 T
T
 C
C
 1 a0001c0001t0019g0241
a0001c0001t0019g0241
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.149-31666T>C
c.149-31666T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567426
chr2:54567448 C
C
 T
T
 32 a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
others(29): Show 
a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 32 HG01109.hp2
HG02109.hp2
HG02258.hp1
others(29): Show 
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-31644C>T
c.149-31644C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567448
chr2:54567502 GC
GC
 G
G
 115 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(112): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 115 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(112): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-31587delC
c.149-31587delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54567502
chr2:54567569 T
T
 C
C
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.149-31523T>C
c.149-31523T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567569
chr2:54567790 A
A
 C
C
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-31302A>C
c.149-31302A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567790
chr2:54567843 G
G
 A
A
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.149-31249G>A
c.149-31249G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567843
chr2:54567904 C
C
 T
T
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-31188C>T
c.149-31188C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567904
chr2:54567973 T
T
 C
C
 1 a0001c0001t0002g0225
a0001c0001t0002g0225
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.149-31119T>C
c.149-31119T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54567973
chr2:54568039 T
T
 G
G
 1 a0001c0002t0001g0312
a0001c0002t0001g0312
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.149-31053T>G
c.149-31053T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568039
chr2:54568047 T
T
 C
C
 1 a0001c0002t0046g0332
a0001c0002t0046g0332
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.149-31045T>C
c.149-31045T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568047
chr2:54568178 C
C
 T
T
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-30914C>T
c.149-30914C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568178
chr2:54568349 C
C
 CA
CA
 13 a0001c0001t0002g0349
a0001c0001t0014g0105
a0001c0001t0020g0022
others(10): Show 
a0001c0001t0002g0349
a0001c0001t0014g0105
a0001c0001t0020g0022
a0001c0001t0050g0242
a0001c0002t0001g0086
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0010t0002g0199
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 13 HG01346.hp2
HG02738.hp2
HG03130.hp1
others(10): Show 
HG01346.hp2
HG02738.hp2
HG03130.hp1
HG03209.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp1
NA18906.hp1
NA18970.hp1
NA18974.hp2
NA18978.hp2
NA19058.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-30720dupA
c.149-30720dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54568349
chr2:54568349 CA
CA
 C
C
 70 a0001c0001t0002g0208
a0001c0001t0004g0001
a0001c0001t0004g0070
others(67): Show 
a0001c0001t0002g0208
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0003t0003g0251
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0166
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0011t0003g0171
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0017t0002g0165
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 70 HG00140.hp2
HG00323.hp1
HG00438.hp2
others(67): Show 
HG00140.hp2
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03688.hp2
HG03927.hp1
HG03942.hp1
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19030.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.149-30720delA
c.149-30720delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54568349
chr2:54568349 CAA
CAA
 C
C
 29 a0001c0001t0010g0238
a0001c0002t0001g0115
a0001c0002t0001g0310
others(26): Show 
a0001c0001t0010g0238
a0001c0002t0001g0115
a0001c0002t0001g0310
a0001c0002t0005g0122
a0001c0004t0004g0218
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 29 HG01109.hp2
HG02109.hp2
HG02258.hp1
others(26): Show 
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18964.hp2
NA18977.hp1
NA18992.hp2
NA19043.hp1
NA19055.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-30721_149-3072
others(6): Show 
c.149-30721_149-30720delAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54568349
chr2:54568349 CAAA
CAAA
 C
C
 77 a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
others(74): Show 
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0005t0003g0047
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 77 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(74): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18522.hp2
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-30722_149-3072
others(7): Show 
c.149-30722_149-30720delAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54568349
chr2:54568349 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 C
C
 1 a0001c0003t0003g0261
a0001c0003t0003g0261
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.149-30732_149-3072
others(17): Show 
c.149-30732_149-30720delAAAAAAAAAAAAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54568349
chr2:54568370 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-30722A>G
c.149-30722A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568370
chr2:54568757 T
T
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-30335T>C
c.149-30335T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568757
chr2:54568792 A
A
 G
G
 116 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(113): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 116 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(113): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-30300A>G
c.149-30300A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568792
chr2:54568966 A
A
 G
G
 1 a0001c0002t0001g0312
a0001c0002t0001g0312
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.149-30126A>G
c.149-30126A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568966
chr2:54568975 A
A
 G
G
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-30117A>G
c.149-30117A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568975
chr2:54568976 A
A
 G
G
 68 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(65): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 68 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.149-30116A>G
c.149-30116A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54568976
chr2:54569007 G
G
 A
A
 6 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(3): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0357
a0001c0003t0003g0360
 6 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(3): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
 intron_variant MODIFIER c.149-30085G>A
c.149-30085G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569007
chr2:54569065 C
C
 G
G
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.149-30027C>G
c.149-30027C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569065
chr2:54569146 G
G
 A
A
 1 a0001c0001t0005g0345
a0001c0001t0005g0345
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.149-29946G>A
c.149-29946G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569146
chr2:54569188 G
G
 A
A
 1 a0001c0005t0012g0370
a0001c0005t0012g0370
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.149-29904G>A
c.149-29904G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569188
chr2:54569196 G
G
 A
A
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
 4 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(1): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.149-29896G>A
c.149-29896G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569196
chr2:54569230 C
C
 T
T
 1 a0001c0002t0001g0009
a0001c0002t0001g0009
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.149-29862C>T
c.149-29862C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569230
chr2:54569324 T
T
 G
G
 68 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(65): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 68 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.149-29768T>G
c.149-29768T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569324
chr2:54569595 T
T
 C
C
 1 a0001c0001t0002g0349
a0001c0001t0002g0349
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.149-29497T>C
c.149-29497T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569595
chr2:54569657 A
A
 G
G
 2 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0026
a0001c0012t0016g0135
 2 HG03225.hp1
NA19030.hp1
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-29435A>G
c.149-29435A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569657
chr2:54569746 T
T
 G
G
 8 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(5): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
 8 HG02615.hp2
HG03041.hp2
HG03130.hp2
others(5): Show 
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-29346T>G
c.149-29346T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569746
chr2:54569794 C
C
 A
A
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-29298C>A
c.149-29298C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569794
chr2:54569971 T
T
 TC
TC
 86 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0022g0164
others(83): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0077
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0004g0024
a0001c0004t0002g0161
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0025t0003g0352
a0005c0028t0001g0006
a0008c0030t0030g0174
a0010c0034t0001g0002
 86 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(83): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp1
HG03491.hp2
HG03654.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp2
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-29111dupC
c.149-29111dupC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54569971
chr2:54569971 TC
TC
 T
T
 16 a0001c0003t0009g0227
a0001c0005t0008g0041
a0001c0005t0008g0048
others(13): Show 
a0001c0003t0009g0227
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 16 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(13): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA18941.hp2
NA19240.hp2
 intron_variant MODIFIER c.149-29111delC
c.149-29111delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54569971
chr2:54569976 C
C
 A
A
 86 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(83): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 86 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(83): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02451.hp2
HG02559.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03491.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG06807.hp1
HG06807.hp2
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-29116C>A
c.149-29116C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569976
chr2:54569978 C
C
 A
A
 2 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0026
a0001c0012t0016g0135
 2 HG03225.hp1
NA19030.hp1
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-29114C>A
c.149-29114C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569978
chr2:54569979 C
C
 G
G
 2 a0001c0001t0005g0291
a0001c0001t0040g0300
a0001c0001t0005g0291
a0001c0001t0040g0300
 2 HG01346.hp1
homoSapiens_chm13v2.hp1
HG01346.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.149-29113C>G
c.149-29113C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569979
chr2:54569979 C
C
 T
T
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.149-29113C>T
c.149-29113C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569979
chr2:54569993 T
T
 G
G
 1 a0004c0032t0004g0329
a0004c0032t0004g0329
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.149-29099T>G
c.149-29099T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54569993
chr2:54570068 T
T
 A
A
 8 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(5): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
 8 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(5): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-29024T>A
c.149-29024T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570068
chr2:54570119 T
T
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-28973T>A
c.149-28973T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570119
chr2:54570133 G
G
 A
A
 1 a0001c0004t0004g0131
a0001c0004t0004g0131
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.149-28959G>A
c.149-28959G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570133
chr2:54570317 A
A
 G
G
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.149-28775A>G
c.149-28775A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570317
chr2:54570488 C
C
 G
G
 1 a0001c0001t0039g0058
a0001c0001t0039g0058
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.149-28604C>G
c.149-28604C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570488
chr2:54570526 T
T
 G
G
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.149-28566T>G
c.149-28566T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570526
chr2:54570572 G
G
 T
T
 66 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(63): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 66 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-28520G>T
c.149-28520G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570572
chr2:54570625 T
T
 A
A
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.149-28467T>A
c.149-28467T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570625
chr2:54570661 C
C
 T
T
 105 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(102): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0056
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 105 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(102): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-28431C>T
c.149-28431C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570661
chr2:54570906 G
G
 GTA
GTA
 12 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(9): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0034g0003
a0001c0019t0012g0246
a0001c0019t0012g0252
 12 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(9): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03540.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-28183_149-2818
others(6): Show 
c.149-28183_149-28182dupTA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54570906
chr2:54570908 A
A
 G
G
 2 a0001c0002t0001g0115
a0001c0002t0006g0089
a0001c0002t0001g0115
a0001c0002t0006g0089
 2 NA18964.hp2
NA18987.hp1
NA18964.hp2
NA18987.hp1
 intron_variant MODIFIER c.149-28184A>G
c.149-28184A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54570908
chr2:54571064 A
A
 G
G
 1 a0001c0002t0001g0147
a0001c0002t0001g0147
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.149-28028A>G
c.149-28028A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571064
chr2:54571135 T
T
 C
C
 127 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(124): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 127 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(124): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-27957T>C
c.149-27957T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571135
chr2:54571206 G
G
 C
C
 22 a0001c0001t0005g0221
a0001c0005t0008g0048
a0001c0005t0008g0049
others(19): Show 
a0001c0001t0005g0221
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 22 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(19): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02109.hp2
HG02559.hp2
HG02886.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03579.hp1
HG03654.hp1
HG03942.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-27886G>C
c.149-27886G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571206
chr2:54571210 C
C
 G
G
 19 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(16): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 19 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(16): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02109.hp2
HG02559.hp2
HG02886.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-27882C>G
c.149-27882C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571210
chr2:54571348 C
C
 T
T
 2 a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0015t0002g0212
a0001c0015t0002g0220
 2 NA19084.hp1
NA19085.hp2
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.149-27744C>T
c.149-27744C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571348
chr2:54571391 T
T
 G
G
 1 a0001c0002t0001g0133
a0001c0002t0001g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.149-27701T>G
c.149-27701T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571391
chr2:54571404 G
G
 A
A
 245 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(242): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0056
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 245 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(242): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-27688G>A
c.149-27688G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571404
chr2:54571459 G
G
 A
A
 245 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(242): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0056
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 245 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(242): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-27633G>A
c.149-27633G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571459
chr2:54571536 T
T
 A
A
 12 a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
others(9): Show 
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 12 HG01346.hp2
HG02055.hp1
HG02451.hp1
others(9): Show 
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-27556T>A
c.149-27556T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571536
chr2:54571546 T
T
 TAC
TAC
 9 a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0030
others(6): Show 
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0216
a0001c0001t0002g0224
a0001c0001t0002g0239
a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0005g0211
 9 HG00408.hp2
HG00558.hp1
HG02015.hp1
others(6): Show 
HG00408.hp2
HG00558.hp1
HG02015.hp1
NA18977.hp2
NA19012.hp1
NA19076.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
 intron_variant MODIFIER c.149-27518_149-2751
others(6): Show 
c.149-27518_149-27517dupCA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571546
chr2:54571546 TACACACA
others(5): Show 
TACACACACACAC
 T
T
 1 a0001c0002t0001g0086
a0001c0002t0001g0086
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.149-27528_149-2751
others(16): Show 
c.149-27528_149-27517delCACACACACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571546
chr2:54571556 CACACACA
others(13): Show 
CACACACACACACACACACAT
 C
C
 3 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
 3 HG02055.hp2
HG02818.hp1
HG03540.hp2
HG02055.hp2
HG02818.hp1
HG03540.hp2
 intron_variant MODIFIER c.149-27516_149-2749
others(24): Show 
c.149-27516_149-27497delTACACACACACACACACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571556
chr2:54571558 CACACACA
others(11): Show 
CACACACACACACACACAT
 C
C
 15 a0001c0005t0021g0052
a0001c0008t0005g0045
a0001c0008t0005g0046
others(12): Show 
a0001c0005t0021g0052
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
 15 HG01346.hp2
HG02055.hp1
HG02451.hp1
others(12): Show 
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02647.hp1
HG02809.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03654.hp1
HG03942.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-27516_149-2749
others(22): Show 
c.149-27516_149-27499delTACACACACACACACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571558
chr2:54571560 CACACACA
others(9): Show 
CACACACACACACACAT
 C
C
 12 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(9): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0005g0221
a0001c0005t0008g0041
a0001c0005t0008g0050
a0001c0005t0008g0269
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0019t0012g0246
a0001c0019t0012g0252
 12 HG01109.hp2
HG01167.hp2
HG02258.hp1
others(9): Show 
HG01109.hp2
HG01167.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02818.hp2
HG03471.hp1
HG03540.hp1
HG04204.hp2
HG06807.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-27516_149-2750
others(20): Show 
c.149-27516_149-27501delTACACACACACACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571560
chr2:54571562 CACACACA
others(7): Show 
CACACACACACACAT
 C
C
 27 a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
others(24): Show 
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0018t0007g0112
a0001c0018t0042g0027
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 27 HG02109.hp2
HG02559.hp2
HG02572.hp1
others(24): Show 
HG02109.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp2
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-27516_149-2750
others(18): Show 
c.149-27516_149-27503delTACACACACACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571562
chr2:54571564 CACACACA
others(5): Show 
CACACACACACAT
 C
C
 41 a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
others(38): Show 
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0011t0003g0171
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 41 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(38): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02135.hp2
HG02698.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp2
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.149-27516_149-2750
others(16): Show 
c.149-27516_149-27505delTACACACACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571564
chr2:54571566 CACACACA
others(3): Show 
CACACACACAT
 C
C
 100 a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
others(97): Show 
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0356
a0001c0005t0003g0005
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0228
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0005c0028t0001g0006
a0010c0034t0001g0002
 100 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(97): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02738.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-27516_149-2750
others(14): Show 
c.149-27516_149-27507delTACACACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571566
chr2:54571568 C
C
 T
T
 7 a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
others(4): Show 
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0033t0007g0248
 7 HG01071.hp2
HG01081.hp2
HG01981.hp1
others(4): Show 
HG01071.hp2
HG01081.hp2
HG01981.hp1
HG02145.hp1
HG03688.hp2
HG03927.hp1
NA20905.hp1
 intron_variant MODIFIER c.149-27524C>T
c.149-27524C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571568
chr2:54571570 C
C
 T
T
 9 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(6): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0008t0026g0364
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 9 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.149-27522C>T
c.149-27522C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571570
chr2:54571570 CACACAT
CACACAT
 C
C
 6 a0001c0003t0003g0139
a0001c0005t0003g0004
a0001c0005t0003g0047
others(3): Show 
a0001c0003t0003g0139
a0001c0005t0003g0004
a0001c0005t0003g0047
a0001c0005t0043g0039
a0001c0009t0007g0280
a0008c0030t0030g0174
 6 HG01106.hp2
HG02717.hp2
HG02886.hp1
others(3): Show 
HG01106.hp2
HG02717.hp2
HG02886.hp1
HG03516.hp1
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.149-27516_149-2751
others(10): Show 
c.149-27516_149-27511delTACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571570
chr2:54571572 C
C
 T
T
 36 a0001c0001t0004g0070
a0001c0004t0004g0068
a0001c0004t0004g0069
others(33): Show 
a0001c0001t0004g0070
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0003c0031t0004g0063
 36 HG00323.hp1
HG00741.hp2
HG01168.hp1
others(33): Show 
HG00323.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02080.hp1
HG02145.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18993.hp1
NA19000.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
 intron_variant MODIFIER c.149-27520C>T
c.149-27520C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571572
chr2:54571572 CACAT
CACAT
 C
C
 14 a0001c0001t0050g0242
a0001c0004t0007g0110
a0001c0004t0007g0173
others(11): Show 
a0001c0001t0050g0242
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0005t0025g0250
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0029t0007g0290
a0001c0033t0007g0248
 14 HG01071.hp2
HG01081.hp2
HG01981.hp1
others(11): Show 
HG01071.hp2
HG01081.hp2
HG01981.hp1
HG02145.hp1
HG02630.hp1
HG02809.hp2
HG02895.hp2
HG03225.hp1
HG03688.hp2
HG03927.hp1
HG06807.hp2
NA19030.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-27516_149-2751
others(8): Show 
c.149-27516_149-27513delTACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571572
chr2:54571574 C
C
 T
T
 2 a0001c0004t0002g0161
a0001c0005t0011g0038
a0001c0004t0002g0161
a0001c0005t0011g0038
 2 HG02559.hp1
HG03195.hp1
HG02559.hp1
HG03195.hp1
 intron_variant MODIFIER c.149-27518C>T
c.149-27518C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571574
chr2:54571574 CAT
CAT
 C
C
 11 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(8): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0022g0118
a0001c0001t0049g0076
a0001c0004t0004g0195
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
 11 HG00738.hp1
HG02145.hp2
HG02257.hp2
others(8): Show 
HG00738.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
NA18993.hp1
NA19002.hp2
NA20300.hp1
 intron_variant MODIFIER c.149-27516_149-2751
others(6): Show 
c.149-27516_149-27515delTA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571574
chr2:54571576 T
T
 C
C
 36 a0001c0001t0002g0079
a0001c0001t0002g0208
a0001c0001t0004g0070
others(33): Show 
a0001c0001t0002g0079
a0001c0001t0002g0208
a0001c0001t0004g0070
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
a0003c0031t0004g0063
a0004c0032t0004g0329
 36 HG00323.hp1
HG00741.hp2
HG01168.hp1
others(33): Show 
HG00323.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02080.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18962.hp2
NA18968.hp1
NA18987.hp2
NA18990.hp2
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
 intron_variant MODIFIER c.149-27516T>C
c.149-27516T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571576
chr2:54571576 T
T
 TAC
TAC
 3 a0001c0001t0002g0033
a0001c0001t0005g0309
a0001c0010t0017g0162
a0001c0001t0002g0033
a0001c0001t0005g0309
a0001c0010t0017g0162
 3 HG00423.hp2
HG01978.hp1
NA19000.hp1
HG00423.hp2
HG01978.hp1
NA19000.hp1
 intron_variant MODIFIER c.149-27492_149-2749
others(6): Show 
c.149-27492_149-27491dupCA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571576
chr2:54571576 TAC
TAC
 T
T
 4 a0001c0001t0002g0225
a0001c0001t0005g0291
a0001c0001t0005g0341
others(1): Show 
a0001c0001t0002g0225
a0001c0001t0005g0291
a0001c0001t0005g0341
a0001c0001t0005g0344
 4 HG01361.hp2
HG01515.hp1
HG02155.hp2
others(1): Show 
HG01361.hp2
HG01515.hp1
HG02155.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.149-27492_149-2749
others(6): Show 
c.149-27492_149-27491delCA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571576
chr2:54571576 TACACACA
others(17): Show 
TACACACACACACACACACACACAC
 T
T
 1 a0001c0005t0011g0038
a0001c0005t0011g0038
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.149-27514_149-2749
others(28): Show 
c.149-27514_149-27491delCACACACACACACACACACACACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571576
chr2:54571578 C
C
 T
T
 83 a0001c0001t0002g0208
a0001c0001t0029g0100
a0001c0002t0001g0009
others(80): Show 
a0001c0001t0002g0208
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0005c0028t0001g0006
a0010c0034t0001g0002
 83 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(80): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-27514C>T
c.149-27514C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571578
chr2:54571580 C
C
 T
T
 1 a0001c0001t0022g0118
a0001c0001t0022g0118
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.149-27512C>T
c.149-27512C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571580
chr2:54571592 C
C
 T
T
 1 a0001c0011t0003g0228
a0001c0011t0003g0228
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.149-27500C>T
c.149-27500C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571592
chr2:54571594 C
C
 T
T
 66 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(63): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 66 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-27498C>T
c.149-27498C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571594
chr2:54571596 C
C
 T
T
 66 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(63): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 66 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-27496C>T
c.149-27496C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571596
chr2:54571598 C
C
 T
T
 126 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(123): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 126 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(123): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-27494C>T
c.149-27494C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571598
chr2:54571600 C
C
 T
T
 126 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(123): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 126 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(123): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-27492C>T
c.149-27492C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571600
chr2:54571687 ATAGTGTG
others(1): Show 
ATAGTGTGT
 A
A
 124 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(121): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 124 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(121): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-27395_149-2738
others(12): Show 
c.149-27395_149-27388delAGTGTGTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54571687
chr2:54571707 C
C
 T
T
 40 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(37): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 40 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-27385C>T
c.149-27385C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571707
chr2:54571754 T
T
 C
C
 1 a0001c0007t0013g0108
a0001c0007t0013g0108
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.149-27338T>C
c.149-27338T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571754
chr2:54571759 A
A
 T
T
 83 a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
others(80): Show 
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 83 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(80): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-27333A>T
c.149-27333A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571759
chr2:54571823 A
A
 C
C
 1 a0001c0001t0004g0091
a0001c0001t0004g0091
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.149-27269A>C
c.149-27269A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571823
chr2:54571971 C
C
 T
T
 2 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0015
a0001c0001t0002g0030
 2 NA19012.hp1
NA19083.hp1
NA19012.hp1
NA19083.hp1
 intron_variant MODIFIER c.149-27121C>T
c.149-27121C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571971
chr2:54571989 A
A
 T
T
 1 a0001c0001t0002g0095
a0001c0001t0002g0095
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.149-27103A>T
c.149-27103A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571989
chr2:54571990 G
G
 A
A
 87 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(84): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0008c0030t0030g0174
 87 HG01106.hp2
HG01109.hp2
HG01167.hp1
others(84): Show 
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19030.hp2
NA19043.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-27102G>A
c.149-27102G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54571990
chr2:54572002 C
C
 A
A
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.149-27090C>A
c.149-27090C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572002
chr2:54572037 A
A
 G
G
 89 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(86): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0008c0030t0030g0174
 89 HG01106.hp2
HG01109.hp2
HG01167.hp1
others(86): Show 
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19030.hp2
NA19043.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-27055A>G
c.149-27055A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572037
chr2:54572084 TC
TC
 T
T
 157 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(154): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0004t0002g0161
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0008c0030t0030g0174
a0010c0034t0001g0002
 157 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(154): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18951.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19043.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-27007delC
c.149-27007delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572084
chr2:54572173 GAA
GAA
 G
G
 4 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(1): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-26917_149-2691
others(6): Show 
c.149-26917_149-26916delAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54572173
chr2:54572399 A
A
 G
G
 1 a0001c0002t0006g0278
a0001c0002t0006g0278
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.149-26693A>G
c.149-26693A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572399
chr2:54572422 C
C
 T
T
 125 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(122): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0273
a0001c0002t0001g0275
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 125 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(122): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-26670C>T
c.149-26670C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572422
chr2:54572423 G
G
 T
T
 125 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(122): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0273
a0001c0002t0001g0275
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 125 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(122): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-26669G>T
c.149-26669G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572423
chr2:54572462 G
G
 T
T
 124 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(121): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 124 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(121): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-26630G>T
c.149-26630G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572462
chr2:54572463 C
C
 T
T
 1 a0001c0001t0041g0247
a0001c0001t0041g0247
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.149-26629C>T
c.149-26629C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572463
chr2:54572469 T
T
 C
C
 175 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(172): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 175 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(172): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp2
NA19062.hp2
NA19064.hp2
NA19067.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-26623T>C
c.149-26623T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572469
chr2:54572471 G
G
 C
C
 1 a0001c0001t0002g0120
a0001c0001t0002g0120
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.149-26621G>C
c.149-26621G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572471
chr2:54572618 C
C
 T
T
 2 a0001c0002t0001g0274
a0001c0002t0001g0312
a0001c0002t0001g0274
a0001c0002t0001g0312
 2 HG02300.hp1
HG02486.hp1
HG02300.hp1
HG02486.hp1
 intron_variant MODIFIER c.149-26474C>T
c.149-26474C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572618
chr2:54572675 A
A
 T
T
 4 a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0015t0002g0212
others(1): Show 
a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0015t0002g0212
a0001c0015t0002g0220
 4 HG02015.hp1
NA19079.hp2
NA19084.hp1
others(1): Show 
HG02015.hp1
NA19079.hp2
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.149-26417A>T
c.149-26417A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572675
chr2:54572761 G
G
 A
A
 9 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(6): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 9 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-26331G>A
c.149-26331G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572761
chr2:54572991 T
T
 G
G
 105 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(102): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 105 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(102): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-26101T>G
c.149-26101T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54572991
chr2:54573491 C
C
 T
T
 1 a0001c0016t0005g0099
a0001c0016t0005g0099
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.149-25601C>T
c.149-25601C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54573491
chr2:54573613 G
G
 A
A
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.149-25479G>A
c.149-25479G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54573613
chr2:54573779 C
C
 T
T
 1 a0001c0003t0009g0236
a0001c0003t0009g0236
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.149-25313C>T
c.149-25313C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54573779
chr2:54573928 C
C
 CAG
CAG
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-25162_149-2516
others(6): Show 
c.149-25162_149-25161dupGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54573928
chr2:54573937 A
A
 T
T
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-25155A>T
c.149-25155A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54573937
chr2:54574197 A
A
 G
G
 16 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(13): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 16 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(13): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-24895A>G
c.149-24895A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574197
chr2:54574225 G
G
 T
T
 1 a0001c0018t0007g0112
a0001c0018t0007g0112
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.149-24867G>T
c.149-24867G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574225
chr2:54574282 A
A
 G
G
 1 a0001c0001t0022g0164
a0001c0001t0022g0164
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.149-24810A>G
c.149-24810A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574282
chr2:54574292 C
C
 T
T
 3 a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
 3 HG02630.hp1
HG02886.hp1
HG03516.hp2
HG02630.hp1
HG02886.hp1
HG03516.hp2
 intron_variant MODIFIER c.149-24800C>T
c.149-24800C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574292
chr2:54574307 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.149-24785C>T
c.149-24785C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574307
chr2:54574385 A
A
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.149-24707A>T
c.149-24707A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574385
chr2:54574388 T
T
 C
C
 59 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(56): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 59 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(56): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-24704T>C
c.149-24704T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574388
chr2:54574454 T
T
 A
A
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-24638T>A
c.149-24638T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574454
chr2:54574719 G
G
 A
A
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-24373G>A
c.149-24373G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574719
chr2:54574987 G
G
 A
A
 56 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(53): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 56 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(53): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.149-24105G>A
c.149-24105G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54574987
chr2:54575069 T
T
 C
C
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-24023T>C
c.149-24023T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575069
chr2:54575131 A
A
 G
G
 2 a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0011t0023g0229
a0001c0011t0023g0230
 2 HG00280.hp1
HG01168.hp2
HG00280.hp1
HG01168.hp2
 intron_variant MODIFIER c.149-23961A>G
c.149-23961A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575131
chr2:54575180 A
A
 C
C
 16 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(13): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 16 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(13): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-23912A>C
c.149-23912A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575180
chr2:54575260 A
A
 G
G
 43 a0001c0001t0004g0070
a0001c0001t0007g0347
a0001c0004t0002g0161
others(40): Show 
a0001c0001t0004g0070
a0001c0001t0007g0347
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 43 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(40): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.149-23832A>G
c.149-23832A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575260
chr2:54575377 G
G
 C
C
 125 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(122): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 125 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(122): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-23715G>C
c.149-23715G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575377
chr2:54575531 T
T
 G
G
 1 a0001c0002t0001g0337
a0001c0002t0001g0337
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.149-23561T>G
c.149-23561T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575531
chr2:54575556 C
C
 T
T
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.149-23536C>T
c.149-23536C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575556
chr2:54575558 T
T
 A
A
 1 a0001c0005t0008g0062
a0001c0005t0008g0062
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.149-23534T>A
c.149-23534T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575558
chr2:54575559 T
T
 G
G
 134 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(131): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 134 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(131): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-23533T>G
c.149-23533T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575559
chr2:54575606 A
A
 C
C
 1 a0001c0012t0016g0189
a0001c0012t0016g0189
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.149-23486A>C
c.149-23486A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575606
chr2:54575732 T
T
 A
A
 3 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
 3 HG02738.hp2
HG03669.hp2
NA20905.hp2
HG02738.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.149-23360T>A
c.149-23360T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575732
chr2:54575733 G
G
 T
T
 3 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
 3 HG02738.hp2
HG03669.hp2
NA20905.hp2
HG02738.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.149-23359G>T
c.149-23359G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575733
chr2:54575761 A
A
 C
C
 37 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(34): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 37 HG01109.hp2
HG01167.hp2
HG01255.hp2
others(34): Show 
HG01109.hp2
HG01167.hp2
HG01255.hp2
HG02109.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-23331A>C
c.149-23331A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54575761
chr2:54575988 AG
AG
 A
A
 13 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(10): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 13 HG00738.hp1
HG02145.hp2
HG02257.hp2
others(10): Show 
HG00738.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-23101delG
c.149-23101delG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54575988
chr2:54576055 C
C
 CTTTTT
CTTTTT
 54 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(51): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0036g0361
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0011t0003g0171
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0006c0027t0003g0075
a0007c0024t0009g0232
 54 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(51): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02698.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19090.hp2
NA19240.hp1
 intron_variant MODIFIER c.149-23024_149-2302
others(9): Show 
c.149-23024_149-23020dupTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTT
CTTTTTT
 10 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0139
others(7): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0139
a0001c0003t0003g0257
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0357
a0001c0003t0033g0172
a0001c0011t0003g0228
a0001c0026t0006g0102
 10 HG00438.hp1
HG01258.hp2
HG01884.hp2
others(7): Show 
HG00438.hp1
HG01258.hp2
HG01884.hp2
HG02109.hp1
HG02630.hp2
HG02738.hp1
HG03098.hp1
HG03098.hp2
NA19086.hp2
NA20300.hp2
 intron_variant MODIFIER c.149-23025_149-2302
others(10): Show 
c.149-23025_149-23020dupTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 70 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(67): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0287
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
 70 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(67): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02895.hp2
HG03491.hp2
HG03654.hp2
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-23027_149-2302
others(12): Show 
c.149-23027_149-23020dupTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 21 a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0204
others(18): Show 
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0308
a0001c0002t0001g0326
a0001c0002t0005g0122
a0001c0002t0006g0276
a0001c0002t0006g0281
a0001c0002t0006g0314
a0001c0002t0006g0328
a0001c0007t0001g0302
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0010c0034t0001g0002
 21 HG00735.hp1
HG00741.hp1
HG01175.hp1
others(18): Show 
HG00735.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02145.hp2
HG02300.hp1
HG02809.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
NA18944.hp2
NA18968.hp2
NA18998.hp1
NA19001.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-23028_149-2302
others(13): Show 
c.149-23028_149-23020dupTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 2 a0001c0001t0050g0242
a0001c0002t0006g0089
a0001c0001t0050g0242
a0001c0002t0006g0089
 2 NA18987.hp1
NA21309.hp1
NA18987.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-23029_149-2302
others(14): Show 
c.149-23029_149-23020dupTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.149-23032_149-2302
others(17): Show 
c.149-23032_149-23020dupTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 2 a0001c0001t0049g0076
a0001c0004t0007g0055
a0001c0001t0049g0076
a0001c0004t0007g0055
 2 HG00738.hp1
HG02922.hp2
HG00738.hp1
HG02922.hp2
 intron_variant MODIFIER c.149-23033_149-2302
others(18): Show 
c.149-23033_149-23020dupTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 12 a0001c0001t0004g0070
a0001c0001t0019g0183
a0001c0004t0004g0069
others(9): Show 
a0001c0001t0004g0070
a0001c0001t0019g0183
a0001c0004t0004g0069
a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0201
a0001c0004t0004g0218
a0001c0004t0004g0266
a0001c0004t0007g0173
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
 12 HG00323.hp1
HG01071.hp2
HG01496.hp2
others(9): Show 
HG00323.hp1
HG01071.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01981.hp1
HG02280.hp1
HG02602.hp2
NA18940.hp2
NA18955.hp1
NA19055.hp1
NA20129.hp1
 intron_variant MODIFIER c.149-23034_149-2302
others(19): Show 
c.149-23034_149-23020dupTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 15 a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
others(12): Show 
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0132
a0001c0004t0004g0195
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0317
a0001c0004t0004g0358
a0001c0004t0007g0110
a0001c0004t0010g0175
a0001c0008t0005g0245
 15 HG01081.hp2
HG01168.hp1
HG01169.hp1
others(12): Show 
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG02897.hp1
HG02965.hp2
HG03927.hp1
HG04184.hp1
NA18987.hp2
NA18993.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
 intron_variant MODIFIER c.149-23035_149-2302
others(20): Show 
c.149-23035_149-23020dupTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 18 a0001c0001t0014g0104
a0001c0001t0018g0180
a0001c0001t0019g0241
others(15): Show 
a0001c0001t0014g0104
a0001c0001t0018g0180
a0001c0001t0019g0241
a0001c0004t0004g0068
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0007g0057
a0001c0004t0010g0109
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0008t0005g0045
a0001c0008t0005g0260
a0001c0008t0026g0364
a0004c0032t0004g0329
 18 HG01952.hp2
HG02080.hp1
HG02145.hp1
others(15): Show 
HG01952.hp2
HG02080.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp2
HG02818.hp1
HG02895.hp1
HG03688.hp2
NA18945.hp2
NA18957.hp1
NA18990.hp2
NA19000.hp2
NA19005.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-23036_149-2302
others(21): Show 
c.149-23036_149-23020dupTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 10 a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0014g0105
others(7): Show 
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0014g0105
a0001c0001t0019g0031
a0001c0004t0004g0170
a0001c0004t0004g0318
a0001c0008t0005g0046
a0001c0008t0005g0244
a0001c0008t0005g0306
a0001c0008t0026g0365
 10 HG00741.hp2
HG01175.hp2
HG02055.hp1
others(7): Show 
HG00741.hp2
HG01175.hp2
HG02055.hp1
HG02738.hp2
HG02809.hp1
HG04204.hp2
NA18994.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.149-23020_149-2301
others(22): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 1 a0001c0008t0005g0243
a0001c0008t0005g0243
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.149-23020_149-2301
others(23): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0016t0005g0064
a0001c0016t0005g0064
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.149-23020_149-2301
others(26): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0029t0007g0290
a0001c0029t0007g0290
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-23020_149-2301
others(27): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(17): Show 
CTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0009t0002g0285
a0001c0009t0002g0285
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.149-23020_149-2301
others(28): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(18): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0009t0007g0280
a0001c0009t0007g0280
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.149-23020_149-2301
others(29): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(19): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0009t0045g0298
a0001c0009t0045g0298
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.149-23020_149-2301
others(30): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(25): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0018t0042g0027
a0001c0018t0042g0027
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.149-23020_149-2301
others(36): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(26): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0016t0005g0099
a0001c0016t0005g0099
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.149-23020_149-2301
others(37): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(28): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0018t0007g0112
a0001c0018t0007g0112
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.149-23020_149-2301
others(39): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576055 C
C
 CTTTTTTT
others(30): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0009t0007g0336
a0001c0009t0007g0336
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.149-23020_149-2301
others(41): Show 
c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576055
chr2:54576058 T
T
 C
C
 1 a0001c0005t0034g0003
a0001c0005t0034g0003
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.149-23034T>C
c.149-23034T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576058
chr2:54576072 TG
TG
 T
T
 36 a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
others(33): Show 
a0001c0001t0010g0238
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 36 HG01109.hp2
HG01346.hp2
HG02109.hp2
others(33): Show 
HG01109.hp2
HG01346.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-23019delG
c.149-23019delG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576072
chr2:54576073 G
G
 T
T
 237 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(234): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0191
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 237 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(234): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.149-23019G>T
c.149-23019G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576073
chr2:54576074 A
A
 T
T
 273 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(270): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 273 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(270): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-23018A>T
c.149-23018A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576074
chr2:54576111 A
A
 G
G
 9 a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
others(6): Show 
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0018g0127
 9 HG00438.hp2
HG00609.hp1
NA18952.hp1
others(6): Show 
HG00438.hp2
HG00609.hp1
NA18952.hp1
NA18979.hp1
NA19001.hp2
NA19062.hp1
NA19066.hp2
NA19079.hp1
NA19088.hp1
 intron_variant MODIFIER c.149-22981A>G
c.149-22981A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576111
chr2:54576141 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-22951G>A
c.149-22951G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576141
chr2:54576346 G
G
 C
C
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.149-22746G>C
c.149-22746G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576346
chr2:54576455 GTTAC
GTTAC
 G
G
 4 a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
others(1): Show 
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
 4 HG02145.hp1
HG03688.hp2
HG03927.hp1
others(1): Show 
HG02145.hp1
HG03688.hp2
HG03927.hp1
NA20905.hp1
 intron_variant MODIFIER c.149-22634_149-2263
others(8): Show 
c.149-22634_149-22631delACTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54576455
chr2:54576534 A
A
 C
C
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-22558A>C
c.149-22558A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576534
chr2:54576604 C
C
 A
A
 13 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(10): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 13 HG00738.hp1
HG02145.hp2
HG02257.hp2
others(10): Show 
HG00738.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-22488C>A
c.149-22488C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576604
chr2:54576679 T
T
 C
C
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-22413T>C
c.149-22413T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576679
chr2:54576692 G
G
 C
C
 11 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(8): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 11 HG02055.hp1
HG02055.hp2
HG02280.hp2
others(8): Show 
HG02055.hp1
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-22400G>C
c.149-22400G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576692
chr2:54576837 A
A
 T
T
 8 a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
others(5): Show 
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 8 HG02055.hp1
HG02451.hp1
HG02615.hp1
others(5): Show 
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-22255A>T
c.149-22255A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576837
chr2:54576858 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-22234A>G
c.149-22234A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576858
chr2:54576899 T
T
 G
G
 1 a0002c0006t0003g0200
a0002c0006t0003g0200
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.149-22193T>G
c.149-22193T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576899
chr2:54576940 C
C
 G
G
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.149-22152C>G
c.149-22152C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54576940
chr2:54577054 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-22038G>A
c.149-22038G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577054
chr2:54577062 T
T
 C
C
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.149-22030T>C
c.149-22030T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577062
chr2:54577181 G
G
 C
C
 1 a0001c0005t0011g0038
a0001c0005t0011g0038
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.149-21911G>C
c.149-21911G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577181
chr2:54577293 G
G
 A
A
 1 a0001c0004t0004g0134
a0001c0004t0004g0134
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.149-21799G>A
c.149-21799G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577293
chr2:54577556 A
A
 G
G
 286 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(283): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 286 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(283): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-21536A>G
c.149-21536A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577556
chr2:54577791 G
G
 A
A
 10 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
others(7): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 10 HG02055.hp1
HG02055.hp2
HG02451.hp1
others(7): Show 
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-21301G>A
c.149-21301G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577791
chr2:54577792 T
T
 C
C
 1 a0001c0009t0007g0272
a0001c0009t0007g0272
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.149-21300T>C
c.149-21300T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577792
chr2:54577924 T
T
 C
C
 5 a0001c0003t0003g0292
a0001c0003t0003g0320
a0001c0003t0003g0355
others(2): Show 
a0001c0003t0003g0292
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0357
a0001c0003t0003g0360
 5 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(2): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.149-21168T>C
c.149-21168T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577924
chr2:54577932 ACT
ACT
 A
A
 128 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(125): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 128 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-21156_149-2115
others(6): Show 
c.149-21156_149-21155delTC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54577932
chr2:54577996 C
C
 A
A
 13 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(10): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0026g0364
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 13 HG00738.hp1
HG02145.hp2
HG02257.hp2
others(10): Show 
HG00738.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-21096C>A
c.149-21096C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54577996
chr2:54578000 G
G
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-21092G>A
c.149-21092G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578000
chr2:54578001 C
C
 G
G
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-21091C>G
c.149-21091C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578001
chr2:54578081 C
C
 A
A
 128 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(125): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 128 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-21011C>A
c.149-21011C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578081
chr2:54578134 C
C
 T
T
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-20958C>T
c.149-20958C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578134
chr2:54578272 C
C
 T
T
 128 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(125): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 128 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20820C>T
c.149-20820C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578272
chr2:54578306 G
G
 T
T
 128 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(125): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 128 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20786G>T
c.149-20786G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578306
chr2:54578409 T
T
 A
A
 1 a0001c0001t0020g0022
a0001c0001t0020g0022
 1 NA18974.hp2
NA18974.hp2
 intron_variant MODIFIER c.149-20683T>A
c.149-20683T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578409
chr2:54578450 C
C
 T
T
 127 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(124): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 127 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(124): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20642C>T
c.149-20642C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578450
chr2:54578470 T
T
 C
C
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20622T>C
c.149-20622T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578470
chr2:54578485 T
T
 G
G
 2 a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0019g0183
a0001c0001t0049g0076
 2 HG00738.hp1
HG02280.hp1
HG00738.hp1
HG02280.hp1
 intron_variant MODIFIER c.149-20607T>G
c.149-20607T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578485
chr2:54578612 A
A
 G
G
 129 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(126): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20480A>G
c.149-20480A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578612
chr2:54578639 A
A
 G
G
 128 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(125): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 128 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20453A>G
c.149-20453A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578639
chr2:54578717 T
T
 C
C
 128 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(125): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 128 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20375T>C
c.149-20375T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578717
chr2:54578749 G
G
 GGT
GGT
 77 a0001c0001t0002g0007
a0001c0001t0003g0059
a0001c0001t0003g0060
others(74): Show 
a0001c0001t0002g0007
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0091
a0001c0001t0005g0345
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0044g0297
a0001c0002t0001g0082
a0001c0002t0001g0111
a0001c0002t0001g0204
a0001c0002t0001g0307
a0001c0002t0006g0114
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0011g0038
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0007t0001g0302
a0001c0010t0002g0199
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0006c0027t0003g0075
a0008c0030t0030g0174
 77 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(74): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00741.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02135.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18955.hp2
NA18957.hp2
NA18970.hp1
NA18974.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20315_149-2031
others(6): Show 
c.149-20315_149-20314dupTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54578749
chr2:54578749 G
G
 GGTGT
GGTGT
 12 a0001c0002t0029g0339
a0001c0003t0003g0366
a0001c0003t0009g0227
others(9): Show 
a0001c0002t0029g0339
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0236
a0001c0003t0027g0053
a0001c0003t0033g0172
a0001c0005t0025g0240
a0001c0005t0043g0039
a0001c0007t0001g0311
a0007c0024t0009g0232
 12 HG00639.hp1
HG00639.hp2
HG02886.hp1
others(9): Show 
HG00639.hp1
HG00639.hp2
HG02886.hp1
HG02976.hp1
HG03516.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA19062.hp2
NA19086.hp2
 intron_variant MODIFIER c.149-20317_149-2031
others(8): Show 
c.149-20317_149-20314dupTGTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54578749
chr2:54578749 G
G
 GGTGTGT
GGTGTGT
 10 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0009g0235
others(7): Show 
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0009g0235
a0001c0003t0009g0237
a0001c0004t0004g0317
a0001c0010t0002g0140
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0002c0006t0003g0200
 10 HG00735.hp2
HG01978.hp1
HG02109.hp1
others(7): Show 
HG00735.hp2
HG01978.hp1
HG02109.hp1
HG02293.hp1
HG03098.hp2
HG04184.hp1
HG04204.hp1
NA18941.hp1
NA19056.hp2
NA19067.hp1
 intron_variant MODIFIER c.149-20319_149-2031
others(10): Show 
c.149-20319_149-20314dupTGTGTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54578749
chr2:54578749 GGT
GGT
 G
G
 38 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
others(35): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0052
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0029t0007g0290
 38 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(35): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-20315_149-2031
others(6): Show 
c.149-20315_149-20314delTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54578749
chr2:54578751 T
T
 G
G
 1 a0001c0008t0005g0243
a0001c0008t0005g0243
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.149-20341T>G
c.149-20341T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578751
chr2:54578910 G
G
 A
A
 128 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(125): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 128 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20182G>A
c.149-20182G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578910
chr2:54578912 G
G
 A
A
 128 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(125): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 128 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-20180G>A
c.149-20180G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578912
chr2:54578960 G
G
 C
C
 1 a0001c0004t0004g0205
a0001c0004t0004g0205
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.149-20132G>C
c.149-20132G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578960
chr2:54578961 G
G
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-20131G>C
c.149-20131G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578961
chr2:54578966 A
A
 G
G
 1 a0001c0011t0023g0230
a0001c0011t0023g0230
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.149-20126A>G
c.149-20126A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54578966
chr2:54579023 G
G
 T
T
 1 a0001c0005t0008g0368
a0001c0005t0008g0368
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.149-20069G>T
c.149-20069G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579023
chr2:54579102 C
C
 T
T
 2 a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0098
a0001c0004t0004g0132
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.149-19990C>T
c.149-19990C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579102
chr2:54579118 A
A
 G
G
 7 a0001c0001t0002g0012
a0001c0001t0002g0079
a0001c0001t0002g0208
others(4): Show 
a0001c0001t0002g0012
a0001c0001t0002g0079
a0001c0001t0002g0208
a0001c0001t0002g0216
a0001c0001t0002g0224
a0001c0001t0002g0239
a0001c0001t0022g0118
 7 HG00408.hp2
HG00558.hp1
NA18962.hp2
others(4): Show 
HG00408.hp2
HG00558.hp1
NA18962.hp2
NA18968.hp1
NA19002.hp2
NA19076.hp1
NA19081.hp2
 intron_variant MODIFIER c.149-19974A>G
c.149-19974A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579118
chr2:54579238 G
G
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-19854G>A
c.149-19854G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579238
chr2:54579255 A
A
 G
G
 3 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
 3 HG02055.hp2
HG02818.hp1
HG03540.hp2
HG02055.hp2
HG02818.hp1
HG03540.hp2
 intron_variant MODIFIER c.149-19837A>G
c.149-19837A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579255
chr2:54579285 C
C
 T
T
 1 a0001c0002t0001g0065
a0001c0002t0001g0065
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.149-19807C>T
c.149-19807C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579285
chr2:54579447 ACT
ACT
 A
A
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-19643_149-1964
others(6): Show 
c.149-19643_149-19642delTC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54579447
chr2:54579455 A
A
 G
G
 1 a0001c0005t0008g0050
a0001c0005t0008g0050
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.149-19637A>G
c.149-19637A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579455
chr2:54579474 A
A
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-19618A>G
c.149-19618A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579474
chr2:54579492 C
C
 T
T
 1 a0001c0001t0002g0128
a0001c0001t0002g0128
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.149-19600C>T
c.149-19600C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579492
chr2:54579530 C
C
 T
T
 8 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(5): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
 8 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(5): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-19562C>T
c.149-19562C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579530
chr2:54579574 A
A
 T
T
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-19518A>T
c.149-19518A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579574
chr2:54579575 G
G
 A
A
 112 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(109): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 112 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(109): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-19517G>A
c.149-19517G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579575
chr2:54579637 T
T
 TA
TA
 60 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(57): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0002t0006g0089
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 60 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(57): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-19454dupA
c.149-19454dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54579637
chr2:54579687 C
C
 T
T
 1 a0001c0004t0010g0109
a0001c0004t0010g0109
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.149-19405C>T
c.149-19405C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579687
chr2:54579761 A
A
 C
C
 1 a0001c0001t0019g0183
a0001c0001t0019g0183
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.149-19331A>C
c.149-19331A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579761
chr2:54579951 A
A
 G
G
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-19141A>G
c.149-19141A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54579951
chr2:54580042 T
T
 C
C
 1 a0001c0001t0005g0344
a0001c0001t0005g0344
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.149-19050T>C
c.149-19050T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580042
chr2:54580142 G
G
 A
A
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18950G>A
c.149-18950G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580142
chr2:54580144 C
C
 T
T
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18948C>T
c.149-18948C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580144
chr2:54580148 A
A
 T
T
 1 a0001c0011t0023g0229
a0001c0011t0023g0229
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.149-18944A>T
c.149-18944A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580148
chr2:54580193 G
G
 A
A
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.149-18899G>A
c.149-18899G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580193
chr2:54580269 C
C
 T
T
 1 a0001c0002t0001g0124
a0001c0002t0001g0124
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.149-18823C>T
c.149-18823C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580269
chr2:54580303 G
G
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-18789G>A
c.149-18789G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580303
chr2:54580315 T
T
 A
A
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18777T>A
c.149-18777T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580315
chr2:54580346 A
A
 G
G
 2 a0001c0001t0014g0097
a0009c0022t0051g0078
a0001c0001t0014g0097
a0009c0022t0051g0078
 2 HG03490.hp1
HG03688.hp1
HG03490.hp1
HG03688.hp1
 intron_variant MODIFIER c.149-18746A>G
c.149-18746A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580346
chr2:54580358 A
A
 C
C
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-18734A>C
c.149-18734A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580358
chr2:54580455 C
C
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18637C>G
c.149-18637C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580455
chr2:54580514 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.149-18578C>T
c.149-18578C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580514
chr2:54580515 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-18577A>G
c.149-18577A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580515
chr2:54580520 T
T
 C
C
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18572T>C
c.149-18572T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580520
chr2:54580534 G
G
 A
A
 1 a0001c0009t0007g0280
a0001c0009t0007g0280
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.149-18558G>A
c.149-18558G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580534
chr2:54580551 T
T
 G
G
 4 a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
others(1): Show 
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 4 HG01346.hp2
HG03130.hp1
HG03209.hp1
others(1): Show 
HG01346.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.149-18541T>G
c.149-18541T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580551
chr2:54580600 C
C
 CA
CA
 85 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(82): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0044g0297
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0205
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 85 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02886.hp1
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18477dupA
c.149-18477dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54580600
chr2:54580600 C
C
 CAA
CAA
 17 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(14): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
 17 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(14): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02622.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.149-18478_149-1847
others(6): Show 
c.149-18478_149-18477dupAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54580600
chr2:54580767 A
A
 C
C
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-18325A>C
c.149-18325A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580767
chr2:54580820 G
G
 A
A
 83 a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
others(80): Show 
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 83 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(80): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-18272G>A
c.149-18272G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580820
chr2:54580845 T
T
 C
C
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18247T>C
c.149-18247T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580845
chr2:54580900 C
C
 G
G
 31 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(28): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 31 HG01109.hp2
HG02109.hp2
HG02258.hp1
others(28): Show 
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-18192C>G
c.149-18192C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580900
chr2:54580980 C
C
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18112C>G
c.149-18112C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54580980
chr2:54581022 C
C
 T
T
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-18070C>T
c.149-18070C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581022
chr2:54581054 C
C
 T
T
 125 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(122): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 125 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(122): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-18038C>T
c.149-18038C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581054
chr2:54581114 T
T
 A
A
 132 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(129): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 132 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(129): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-17978T>A
c.149-17978T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581114
chr2:54581127 A
A
 T
T
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-17965A>T
c.149-17965A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581127
chr2:54581154 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-17938A>G
c.149-17938A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581154
chr2:54581185 G
G
 A
A
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-17907G>A
c.149-17907G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581185
chr2:54581194 G
G
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.149-17898G>A
c.149-17898G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581194
chr2:54581203 A
A
 T
T
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-17889A>T
c.149-17889A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581203
chr2:54581278 C
C
 A
A
 13 a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
others(10): Show 
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
 13 HG00738.hp2
HG01123.hp1
HG01175.hp1
others(10): Show 
HG00738.hp2
HG01123.hp1
HG01175.hp1
HG01361.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02257.hp1
HG02273.hp2
HG03669.hp1
 intron_variant MODIFIER c.149-17814C>A
c.149-17814C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581278
chr2:54581343 C
C
 G
G
 1 a0001c0004t0007g0055
a0001c0004t0007g0055
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.149-17749C>G
c.149-17749C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581343
chr2:54581367 T
T
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-17725T>G
c.149-17725T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581367
chr2:54581577 C
C
 CT
CT
 138 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0020
others(135): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0020
a0001c0001t0002g0094
a0001c0001t0002g0216
a0001c0001t0002g0350
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0309
a0001c0001t0005g0341
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0029g0100
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0204
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0287
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0001g0081
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0198
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0017t0002g0226
a0001c0021t0001g0197
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 138 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(135): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18612.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18970.hp1
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19010.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-17492dupT
c.149-17492dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTT
CTT
 37 a0001c0001t0002g0018
a0001c0001t0002g0035
a0001c0002t0001g0009
others(34): Show 
a0001c0001t0002g0018
a0001c0001t0002g0035
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0275
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0007t0001g0192
a0001c0010t0017g0162
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0005c0028t0001g0006
 37 HG00735.hp1
HG01978.hp1
HG02027.hp1
others(34): Show 
HG00735.hp1
HG01978.hp1
HG02027.hp1
HG02080.hp2
HG02165.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA18944.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19002.hp1
NA19030.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19086.hp1
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.149-17493_149-1749
others(6): Show 
c.149-17493_149-17492dupTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTT
CTTTTT
 17 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
others(14): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0005t0031g0187
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 17 HG00738.hp1
HG01346.hp2
HG02055.hp1
others(14): Show 
HG00738.hp1
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-17496_149-1749
others(9): Show 
c.149-17496_149-17492dupTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 1 a0001c0003t0003g0262
a0001c0003t0003g0262
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.149-17506_149-1749
others(19): Show 
c.149-17506_149-17492dupTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 4 a0001c0003t0003g0261
a0001c0003t0003g0305
a0001c0003t0027g0053
others(1): Show 
a0001c0003t0003g0261
a0001c0003t0003g0305
a0001c0003t0027g0053
a0002c0006t0003g0178
 4 HG02965.hp1
HG03098.hp1
NA18906.hp2
others(1): Show 
HG02965.hp1
HG03098.hp1
NA18906.hp2
NA18957.hp2
 intron_variant MODIFIER c.149-17507_149-1749
others(20): Show 
c.149-17507_149-17492dupTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 7 a0001c0003t0003g0008
a0001c0003t0027g0054
a0002c0006t0003g0014
others(4): Show 
a0001c0003t0003g0008
a0001c0003t0027g0054
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0179
a0002c0006t0003g0185
a0002c0006t0003g0188
 7 HG02602.hp1
HG02970.hp2
HG04228.hp1
others(4): Show 
HG02602.hp1
HG02970.hp2
HG04228.hp1
NA18955.hp2
NA18989.hp1
NA19005.hp1
NA19240.hp1
 intron_variant MODIFIER c.149-17508_149-1749
others(21): Show 
c.149-17508_149-17492dupTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 5 a0001c0003t0003g0257
a0001c0009t0007g0288
a0001c0009t0007g0336
others(2): Show 
a0001c0003t0003g0257
a0001c0009t0007g0288
a0001c0009t0007g0336
a0002c0006t0003g0151
a0002c0006t0003g0184
 5 HG01169.hp2
HG01975.hp1
HG02630.hp2
others(2): Show 
HG01169.hp2
HG01975.hp1
HG02630.hp2
NA18974.hp1
NA18994.hp2
 intron_variant MODIFIER c.149-17509_149-1749
others(22): Show 
c.149-17509_149-17492dupTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 8 a0001c0003t0003g0256
a0001c0009t0002g0285
a0001c0009t0007g0289
others(5): Show 
a0001c0003t0003g0256
a0001c0009t0002g0285
a0001c0009t0007g0289
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
a0002c0006t0003g0141
a0002c0006t0003g0152
 8 HG01167.hp1
HG01943.hp1
HG01978.hp2
others(5): Show 
HG01167.hp1
HG01943.hp1
HG01978.hp2
HG02897.hp2
HG03491.hp1
HG06807.hp2
NA18945.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-17510_149-1749
others(23): Show 
c.149-17510_149-17492dupTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(13): Show 
CTTTTTTTTTTTTTTTTTTTT
 2 a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0280
a0001c0009t0007g0286
 2 HG01106.hp2
HG03492.hp2
HG01106.hp2
HG03492.hp2
 intron_variant MODIFIER c.149-17511_149-1749
others(24): Show 
c.149-17511_149-17492dupTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(14): Show 
CTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0006t0003g0200
a0002c0006t0003g0200
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.149-17512_149-1749
others(25): Show 
c.149-17512_149-17492dupTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.149-17514_149-1749
others(27): Show 
c.149-17514_149-17492dupTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 C
C
 CTTTTTTT
others(23): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0009t0007g0272
a0001c0009t0007g0272
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.149-17492_149-1749
others(34): Show 
c.149-17492_149-17491insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 CT
CT
 C
C
 8 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0090
others(5): Show 
a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0090
a0001c0001t0002g0168
a0001c0001t0002g0215
a0001c0001t0010g0238
a0001c0001t0020g0022
a0001c0003t0003g0366
 8 HG01993.hp2
HG02970.hp1
HG02976.hp1
others(5): Show 
HG01993.hp2
HG02970.hp1
HG02976.hp1
NA18971.hp2
NA18974.hp2
NA19012.hp1
NA19055.hp2
NA19083.hp1
 intron_variant MODIFIER c.149-17492delT
c.149-17492delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 CTTTTTT
CTTTTTT
 C
C
 16 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(13): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 16 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(13): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-17497_149-1749
others(10): Show 
c.149-17497_149-17492delTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 C
C
 35 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(32): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 35 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(32): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp1
HG04115.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
 intron_variant MODIFIER c.149-17500_149-1749
others(13): Show 
c.149-17500_149-17492delTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.149-17501_149-1749
others(14): Show 
c.149-17501_149-17492delTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581577 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 1 a0001c0015t0002g0212
a0001c0015t0002g0212
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.149-17503_149-1749
others(16): Show 
c.149-17503_149-17492delTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54581577
chr2:54581657 A
A
 G
G
 1 a0001c0012t0016g0135
a0001c0012t0016g0135
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-17435A>G
c.149-17435A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581657
chr2:54581708 C
C
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-17384C>G
c.149-17384C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581708
chr2:54581720 A
A
 G
G
 1 a0001c0005t0011g0254
a0001c0005t0011g0254
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.149-17372A>G
c.149-17372A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581720
chr2:54581953 C
C
 G
G
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-17139C>G
c.149-17139C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54581953
chr2:54582017 C
C
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-17075C>G
c.149-17075C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54582017
chr2:54582452 T
T
 C
C
 2 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0104
a0001c0001t0014g0105
 2 HG02738.hp2
NA20905.hp2
HG02738.hp2
NA20905.hp2
 intron_variant MODIFIER c.149-16640T>C
c.149-16640T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54582452
chr2:54582478 G
G
 A
A
 1 a0001c0001t0050g0242
a0001c0001t0050g0242
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-16614G>A
c.149-16614G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54582478
chr2:54582480 C
C
 T
T
 5 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
others(2): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
 5 HG01884.hp1
HG02970.hp2
HG02976.hp1
others(2): Show 
HG01884.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
 intron_variant MODIFIER c.149-16612C>T
c.149-16612C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54582480
chr2:54582563 C
C
 CA
CA
 22 a0001c0001t0010g0238
a0001c0003t0009g0237
a0001c0005t0008g0048
others(19): Show 
a0001c0001t0010g0238
a0001c0003t0009g0237
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0011t0003g0228
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0263
a0002c0006t0003g0151
 22 HG02055.hp1
HG02109.hp2
HG02451.hp1
others(19): Show 
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02572.hp2
HG02615.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA18994.hp2
NA19030.hp2
NA19067.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-16512dupA
c.149-16512dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54582563
chr2:54582649 A
A
 G
G
 286 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(283): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 286 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(283): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-16443A>G
c.149-16443A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54582649
chr2:54582739 G
G
 A
A
 1 a0001c0005t0025g0240
a0001c0005t0025g0240
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.149-16353G>A
c.149-16353G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54582739
chr2:54582907 G
G
 C
C
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-16185G>C
c.149-16185G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54582907
chr2:54583052 T
T
 C
C
 1 a0001c0001t0029g0100
a0001c0001t0029g0100
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.149-16040T>C
c.149-16040T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54583052
chr2:54583079 C
C
 T
T
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.149-16013C>T
c.149-16013C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54583079
chr2:54583156 C
C
 T
T
 1 a0001c0001t0022g0164
a0001c0001t0022g0164
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.149-15936C>T
c.149-15936C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54583156
chr2:54583340 C
C
 T
T
 2 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0026
a0001c0012t0016g0135
 2 HG03225.hp1
NA19030.hp1
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-15752C>T
c.149-15752C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54583340
chr2:54583355 A
A
 G
G
 66 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(63): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 66 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-15737A>G
c.149-15737A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54583355
chr2:54583625 A
A
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-15467A>G
c.149-15467A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54583625
chr2:54583744 A
A
 T
T
 3 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0021g0052
 3 HG02486.hp2
HG02647.hp1
HG02818.hp2
HG02486.hp2
HG02647.hp1
HG02818.hp2
 intron_variant MODIFIER c.149-15348A>T
c.149-15348A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54583744
chr2:54583855 G
G
 A
A
 3 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0021g0052
 3 HG02486.hp2
HG02647.hp1
HG02818.hp2
HG02486.hp2
HG02647.hp1
HG02818.hp2
 intron_variant MODIFIER c.149-15237G>A
c.149-15237G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54583855
chr2:54584037 A
A
 G
G
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.149-15055A>G
c.149-15055A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584037
chr2:54584113 G
G
 A
A
 1 a0001c0001t0049g0076
a0001c0001t0049g0076
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.149-14979G>A
c.149-14979G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584113
chr2:54584256 G
G
 A
A
 1 a0001c0021t0001g0197
a0001c0021t0001g0197
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.149-14836G>A
c.149-14836G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584256
chr2:54584334 A
A
 G
G
 1 a0001c0001t0007g0296
a0001c0001t0007g0296
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.149-14758A>G
c.149-14758A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584334
chr2:54584413 A
A
 C
C
 4 a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
others(1): Show 
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 4 HG01346.hp2
HG03130.hp1
HG03209.hp1
others(1): Show 
HG01346.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.149-14679A>C
c.149-14679A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584413
chr2:54584522 GA
GA
 G
G
 5 a0001c0002t0001g0111
a0001c0002t0001g0204
a0001c0002t0029g0339
others(2): Show 
a0001c0002t0001g0111
a0001c0002t0001g0204
a0001c0002t0029g0339
a0001c0007t0001g0302
a0001c0007t0001g0311
 5 HG00639.hp1
HG00639.hp2
HG00741.hp1
others(2): Show 
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG01256.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-14567delA
c.149-14567delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54584522
chr2:54584710 A
A
 G
G
 6 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-14382A>G
c.149-14382A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584710
chr2:54584780 G
G
 A
A
 129 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(126): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-14312G>A
c.149-14312G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584780
chr2:54584936 G
G
 T
T
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.149-14156G>T
c.149-14156G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584936
chr2:54584938 A
A
 T
T
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-14154A>T
c.149-14154A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584938
chr2:54584958 G
G
 C
C
 29 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(26): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 29 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(26): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-14134G>C
c.149-14134G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54584958
chr2:54585052 C
C
 T
T
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.149-14040C>T
c.149-14040C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585052
chr2:54585235 T
T
 G
G
 129 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(126): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-13857T>G
c.149-13857T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585235
chr2:54585246 A
A
 G
G
 60 a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
others(57): Show 
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 60 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(57): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-13846A>G
c.149-13846A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585246
chr2:54585248 A
A
 T
T
 1 a0001c0008t0005g0045
a0001c0008t0005g0045
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.149-13844A>T
c.149-13844A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585248
chr2:54585347 T
T
 G
G
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-13745T>G
c.149-13745T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585347
chr2:54585373 A
A
 C
C
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.149-13719A>C
c.149-13719A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585373
chr2:54585399 C
C
 A
A
 1 a0001c0001t0005g0346
a0001c0001t0005g0346
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.149-13693C>A
c.149-13693C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585399
chr2:54585426 CCT
CCT
 C
C
 129 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(126): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-13663_149-1366
others(6): Show 
c.149-13663_149-13662delCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54585426
chr2:54585431 A
A
 T
T
 129 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(126): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-13661A>T
c.149-13661A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585431
chr2:54585585 C
C
 G
G
 129 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(126): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-13507C>G
c.149-13507C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585585
chr2:54585711 A
A
 AAGAGAGA
others(2480): Show 
AAGAGAGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAT
TTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGG
CAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAA
CAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTG
TTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGA
GCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCT
TAATCCATTTAATCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGG
GTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTT
CTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACAC
AGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCT
TTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCT
GTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGG
CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC
TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
CCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGC
TGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAG
ACGGGGCGGCTGGCCGGGCGGAGGGCTCACCCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGG
GCTCACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGG
GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
CTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGAC
GCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACT
TCTCAGACGGGGCAGCTGCTGGGCGGAGGGGCTCCTCACTTCTCAGACGG
GTGGTTGCCGGGCAGAGGGTCTCCTCACTTCTCAGATGGGGCGGCCGGGC
AGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCAGGCAGAGGCGCTC
CTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAAA
GGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGG
CTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGAG
ACGCTCCTCACTTTCCAGACTGGGCAGCCGGGCAGAGGGGCTCCTCACAT
CCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGG
TGGCAGCCGGGCAGAGGCTGCAATCTTGGCACTTTGGGAGGCCAAGGCAG
GCGGCTGGGAGGTGTAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTC
CAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCC
CGGCACCTCGGGAGGCCGAGGTTGGCGGATCACTCGCGGTTAGGGGCTGG
AGACCGGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAACCAGTCA
GGCGTGGGGGCGCGAGCCTGCAATCGCAGGCACTGGGCAGGCTGAGGCAG
GAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTC
CAGCTTCGGCTCTGCATGAGAGGGAGACCGTGGGAGAGGGAGACCGTGGG
AGACGGAGACGGAGACGGAGACGGAGACGGAGACGGAGACGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGG
 1 a0001c0002t0001g0009
a0001c0002t0001g0009
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.149-13368_149-1336
others(2491): Show 
c.149-13368_149-13367insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAG
GGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATA
AACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCC
TTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGA
CTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTT
GCACCGCCCTTAATCCATTTAATCCTGAGTGGACACAGCACATGTTTCAG
AGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAG
AGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTT
CTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACC
TTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTC
TCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT
CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCGGAGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT
CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT
AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC
CGGGCGGAGGGCTCACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC
AGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCC
GGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAG
GCTCCTCACTTCTCAGACGGGGCAGCTGCTGGGCGGAGGGGCTCCTCACT
TCTCAGACGGGTGGTTGCCGGGCAGAGGGTCTCCTCACTTCTCAGATGGG
GCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCAGGC
AGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCC
ACATCTCAAAGGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGAT
GTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGG
CCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCGGGCAGAGGGG
CTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTC
CCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTTGGCACTTTGGGAG
GCCAAGGCAGGCGGCTGGGAGGTGTAGGTTGTAGTGAGCCGAGATCACGC
CACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCG
TCTGCAATCCCGGCACCTCGGGAGGCCGAGGTTGGCGGATCACTCGCGGT
TAGGGGCTGGAGACCGGCCCGGCCAACACAGCGAAACCCCGTCTCCACCA
AAACCAGTCAGGCGTGGGGGCGCGAGCCTGCAATCGCAGGCACTGGGCAG
GCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAG
CAGTACAGTCCAGCTTCGGCTCTGCATGAGAGGGAGACCGTGGGAGAGGG
AGACCGTGGGAGACGGAGACGGAGACGGAGACGGAGACGGAGACGGAGAC
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAG
AGAGAACTCTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54585711
chr2:54585728 G
G
 T
T
 6 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0012t0016g0026
others(3): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 6 HG02145.hp2
HG02809.hp2
HG02895.hp2
others(3): Show 
HG02145.hp2
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-13364G>T
c.149-13364G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585728
chr2:54585983 A
A
 G
G
 2 a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0027g0053
a0001c0003t0027g0054
 2 NA18906.hp2
NA19240.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.149-13109A>G
c.149-13109A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585983
chr2:54585985 A
A
 G
G
 1 a0001c0011t0023g0229
a0001c0011t0023g0229
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.149-13107A>G
c.149-13107A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54585985
chr2:54586057 G
G
 A
A
 3 a0001c0003t0009g0234
a0001c0003t0009g0236
a0001c0003t0033g0172
a0001c0003t0009g0234
a0001c0003t0009g0236
a0001c0003t0033g0172
 3 NA18940.hp1
NA19062.hp2
NA19086.hp2
NA18940.hp1
NA19062.hp2
NA19086.hp2
 intron_variant MODIFIER c.149-13035G>A
c.149-13035G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54586057
chr2:54586135 G
G
 A
A
 3 a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
 3 HG00140.hp2
HG02738.hp1
HG04115.hp2
HG00140.hp2
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.149-12957G>A
c.149-12957G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54586135
chr2:54586409 A
A
 G
G
 108 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(105): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 108 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-12683A>G
c.149-12683A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54586409
chr2:54586756 A
A
 G
G
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-12336A>G
c.149-12336A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54586756
chr2:54586801 A
A
 C
C
 135 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(132): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 135 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(132): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-12291A>C
c.149-12291A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54586801
chr2:54586888 C
C
 G
G
 1 a0001c0002t0001g0275
a0001c0002t0001g0275
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.149-12204C>G
c.149-12204C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54586888
chr2:54586943 A
A
 G
G
 16 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(13): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 16 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(13): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-12149A>G
c.149-12149A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54586943
chr2:54587062 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.149-12030C>T
c.149-12030C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54587062
chr2:54587078 C
C
 T
T
 264 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(261): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 264 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(261): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-12014C>T
c.149-12014C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54587078
chr2:54587136 C
C
 T
T
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-11956C>T
c.149-11956C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54587136
chr2:54587387 C
C
 T
T
 1 a0001c0002t0001g0121
a0001c0002t0001g0121
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.149-11705C>T
c.149-11705C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54587387
chr2:54587614 A
A
 G
G
 1 a0001c0002t0001g0080
a0001c0002t0001g0080
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.149-11478A>G
c.149-11478A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54587614
chr2:54587760 C
C
 T
T
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-11332C>T
c.149-11332C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54587760
chr2:54587804 G
G
 A
A
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-11288G>A
c.149-11288G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54587804
chr2:54587950 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-11142G>A
c.149-11142G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54587950
chr2:54588103 C
C
 T
T
 129 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(126): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-10989C>T
c.149-10989C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588103
chr2:54588183 C
C
 A
A
 264 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(261): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 264 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(261): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-10909C>A
c.149-10909C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588183
chr2:54588188 C
C
 T
T
 1 a0001c0005t0025g0240
a0001c0005t0025g0240
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.149-10904C>T
c.149-10904C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588188
chr2:54588304 A
A
 G
G
 2 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0002g0249
a0001c0001t0002g0367
 2 HG02717.hp1
HG02922.hp1
HG02717.hp1
HG02922.hp1
 intron_variant MODIFIER c.149-10788A>G
c.149-10788A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588304
chr2:54588338 A
A
 AT
AT
 6 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-10753dupT
c.149-10753dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54588338
chr2:54588348 A
A
 G
G
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-10744A>G
c.149-10744A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588348
chr2:54588687 T
T
 A
A
 5 a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
others(2): Show 
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
 5 HG00735.hp2
HG01978.hp1
HG02293.hp1
others(2): Show 
HG00735.hp2
HG01978.hp1
HG02293.hp1
NA18941.hp1
NA18970.hp1
 intron_variant MODIFIER c.149-10405T>A
c.149-10405T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588687
chr2:54588764 C
C
 A
A
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.149-10328C>A
c.149-10328C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588764
chr2:54588847 C
C
 T
T
 36 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
others(33): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 36 HG01109.hp2
HG01884.hp1
HG02109.hp2
others(33): Show 
HG01109.hp2
HG01884.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-10245C>T
c.149-10245C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588847
chr2:54588927 A
A
 T
T
 36 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
others(33): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 36 HG01109.hp2
HG01884.hp1
HG02109.hp2
others(33): Show 
HG01109.hp2
HG01884.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-10165A>T
c.149-10165A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54588927
chr2:54589043 A
A
 G
G
 24 a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
others(21): Show 
a0001c0003t0003g0008
a0001c0003t0003g0251
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 24 HG01346.hp2
HG01884.hp1
HG02109.hp2
others(21): Show 
HG01346.hp2
HG01884.hp1
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-10049A>G
c.149-10049A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589043
chr2:54589192 C
C
 G
G
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-9900C>G
c.149-9900C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589192
chr2:54589258 G
G
 A
A
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.149-9834G>A
c.149-9834G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589258
chr2:54589287 G
G
 A
A
 1 a0001c0002t0048g0025
a0001c0002t0048g0025
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.149-9805G>A
c.149-9805G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589287
chr2:54589451 C
C
 G
G
 2 a0001c0001t0005g0291
a0001c0001t0005g0344
a0001c0001t0005g0291
a0001c0001t0005g0344
 2 HG01515.hp1
homoSapiens_chm13v2.hp1
HG01515.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.149-9641C>G
c.149-9641C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589451
chr2:54589517 C
C
 T
T
 1 a0001c0018t0042g0027
a0001c0018t0042g0027
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.149-9575C>T
c.149-9575C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589517
chr2:54589593 C
C
 G
G
 3 a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
 3 HG02083.hp2
NA18954.hp1
NA18964.hp1
HG02083.hp2
NA18954.hp1
NA18964.hp1
 intron_variant MODIFIER c.149-9499C>G
c.149-9499C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589593
chr2:54589678 G
G
 T
T
 5 a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
others(2): Show 
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0218
a0003c0031t0004g0063
 5 NA18940.hp2
NA18955.hp1
NA18987.hp2
others(2): Show 
NA18940.hp2
NA18955.hp1
NA18987.hp2
NA19055.hp1
NA19082.hp2
 intron_variant MODIFIER c.149-9414G>T
c.149-9414G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589678
chr2:54589990 A
A
 G
G
 1 a0001c0033t0007g0248
a0001c0033t0007g0248
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.149-9102A>G
c.149-9102A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54589990
chr2:54590034 C
C
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-9058C>A
c.149-9058C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590034
chr2:54590214 G
G
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-8878G>A
c.149-8878G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590214
chr2:54590316 A
A
 T
T
 126 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(123): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 126 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(123): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-8776A>T
c.149-8776A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590316
chr2:54590536 G
G
 A
A
 1 a0001c0023t0005g0283
a0001c0023t0005g0283
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.149-8556G>A
c.149-8556G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590536
chr2:54590546 A
A
 G
G
 153 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(150): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0261
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0010c0034t0001g0002
 153 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG06807.hp1
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp2
NA19010.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-8546A>G
c.149-8546A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590546
chr2:54590673 A
A
 G
G
 15 a0001c0001t0018g0180
a0001c0001t0019g0241
a0001c0005t0031g0187
others(12): Show 
a0001c0001t0018g0180
a0001c0001t0019g0241
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 15 HG01346.hp2
HG02055.hp1
HG02280.hp2
others(12): Show 
HG01346.hp2
HG02055.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-8419A>G
c.149-8419A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590673
chr2:54590696 A
A
 G
G
 86 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(83): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 86 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(83): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-8396A>G
c.149-8396A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590696
chr2:54590701 G
G
 T
T
 3 a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
 3 HG02630.hp1
HG02886.hp1
HG03516.hp2
HG02630.hp1
HG02886.hp1
HG03516.hp2
 intron_variant MODIFIER c.149-8391G>T
c.149-8391G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590701
chr2:54590760 G
G
 A
A
 5 a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
others(2): Show 
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
 5 HG00140.hp2
HG00280.hp1
HG01168.hp2
others(2): Show 
HG00140.hp2
HG00280.hp1
HG01168.hp2
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.149-8332G>A
c.149-8332G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590760
chr2:54590807 C
C
 T
T
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-8285C>T
c.149-8285C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590807
chr2:54590932 T
T
 C
C
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-8160T>C
c.149-8160T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54590932
chr2:54591005 C
C
 T
T
 1 a0001c0011t0023g0230
a0001c0011t0023g0230
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.149-8087C>T
c.149-8087C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591005
chr2:54591151 T
T
 A
A
 1 a0001c0001t0002g0225
a0001c0001t0002g0225
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.149-7941T>A
c.149-7941T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591151
chr2:54591488 C
C
 G
G
 1 a0001c0002t0001g0080
a0001c0002t0001g0080
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.149-7604C>G
c.149-7604C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591488
chr2:54591611 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.149-7481A>G
c.149-7481A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591611
chr2:54591685 C
C
 G
G
 2 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0002g0249
a0001c0001t0002g0367
 2 HG02717.hp1
HG02922.hp1
HG02717.hp1
HG02922.hp1
 intron_variant MODIFIER c.149-7407C>G
c.149-7407C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591685
chr2:54591715 A
A
 G
G
 1 a0001c0002t0001g0111
a0001c0002t0001g0111
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-7377A>G
c.149-7377A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591715
chr2:54591758 T
T
 C
C
 118 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(115): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 118 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(115): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-7334T>C
c.149-7334T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591758
chr2:54591784 G
G
 A
A
 285 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(282): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 285 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(282): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-7308G>A
c.149-7308G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591784
chr2:54591951 G
G
 T
T
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-7141G>T
c.149-7141G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591951
chr2:54591997 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.149-7095A>G
c.149-7095A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54591997
chr2:54592030 G
G
 A
A
 1 a0001c0001t0019g0031
a0001c0001t0019g0031
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.149-7062G>A
c.149-7062G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54592030
chr2:54592215 C
C
 G
G
 2 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0026
a0001c0012t0016g0135
 2 HG03225.hp1
NA19030.hp1
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-6877C>G
c.149-6877C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54592215
chr2:54592223 A
A
 G
G
 2 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0001t0019g0241
a0001c0001t0050g0242
 2 HG02280.hp2
NA21309.hp1
HG02280.hp2
NA21309.hp1
 intron_variant MODIFIER c.149-6869A>G
c.149-6869A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54592223
chr2:54592264 G
G
 C
C
 1 a0001c0003t0027g0054
a0001c0003t0027g0054
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.149-6828G>C
c.149-6828G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54592264
chr2:54592295 A
A
 G
G
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.149-6797A>G
c.149-6797A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54592295
chr2:54592370 CT
CT
 C
C
 85 a0001c0001t0002g0020
a0001c0001t0029g0100
a0001c0002t0001g0009
others(82): Show 
a0001c0001t0002g0020
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-6712delT
c.149-6712delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54592370
chr2:54592388 C
C
 CT
CT
 142 a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
others(139): Show 
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0008c0030t0030g0174
 142 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(139): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18979.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-6695dupT
c.149-6695dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54592388
chr2:54592397 T
T
 TA
TA
 55 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(52): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-6694dupA
c.149-6694dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54592397
chr2:54592406 C
C
 CA
CA
 5 a0001c0002t0001g0080
a0001c0002t0001g0086
a0001c0002t0001g0115
others(2): Show 
a0001c0002t0001g0080
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0124
a0001c0002t0006g0089
 5 HG02083.hp1
NA18964.hp2
NA18970.hp2
others(2): Show 
HG02083.hp1
NA18964.hp2
NA18970.hp2
NA18978.hp2
NA18987.hp1
 intron_variant MODIFIER c.149-6685dupA
c.149-6685dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54592406
chr2:54592645 C
C
 T
T
 1 a0001c0004t0004g0131
a0001c0004t0004g0131
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.149-6447C>T
c.149-6447C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54592645
chr2:54592928 T
T
 G
G
 2 a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0019t0012g0246
a0001c0019t0012g0252
 2 HG02622.hp2
HG03540.hp1
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.149-6164T>G
c.149-6164T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54592928
chr2:54593076 T
T
 C
C
 2 a0001c0002t0001g0274
a0001c0002t0001g0312
a0001c0002t0001g0274
a0001c0002t0001g0312
 2 HG02300.hp1
HG02486.hp1
HG02300.hp1
HG02486.hp1
 intron_variant MODIFIER c.149-6016T>C
c.149-6016T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593076
chr2:54593263 T
T
 C
C
 60 a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
others(57): Show 
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 60 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(57): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-5829T>C
c.149-5829T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593263
chr2:54593361 G
G
 C
C
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.149-5731G>C
c.149-5731G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593361
chr2:54593377 G
G
 C
C
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.149-5715G>C
c.149-5715G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593377
chr2:54593411 C
C
 T
T
 15 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(12): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 15 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(12): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-5681C>T
c.149-5681C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593411
chr2:54593412 C
C
 G
G
 15 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(12): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 15 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(12): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-5680C>G
c.149-5680C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593412
chr2:54593537 C
C
 T
T
 1 a0001c0004t0002g0161
a0001c0004t0002g0161
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.149-5555C>T
c.149-5555C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593537
chr2:54593579 G
G
 A
A
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-5513G>A
c.149-5513G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593579
chr2:54593699 G
G
 A
A
 1 a0001c0015t0002g0212
a0001c0015t0002g0212
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.149-5393G>A
c.149-5393G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593699
chr2:54593746 C
C
 A
A
 6 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0012t0016g0026
others(3): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 6 HG02145.hp2
HG02809.hp2
HG02895.hp2
others(3): Show 
HG02145.hp2
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-5346C>A
c.149-5346C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593746
chr2:54593746 C
C
 T
T
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-5346C>T
c.149-5346C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593746
chr2:54593794 G
G
 A
A
 1 a0001c0002t0001g0310
a0001c0002t0001g0310
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.149-5298G>A
c.149-5298G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593794
chr2:54593823 C
C
 CT
CT
 88 a0001c0001t0002g0012
a0001c0001t0002g0018
a0001c0001t0002g0033
others(85): Show 
a0001c0001t0002g0012
a0001c0001t0002g0018
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0316
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0145
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0005g0341
a0001c0001t0005g0346
a0001c0001t0007g0019
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0096
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0201
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0008t0005g0306
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0013t0015g0259
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0033t0007g0248
a0004c0032t0004g0329
a0009c0022t0051g0078
 88 HG00323.hp1
HG00408.hp2
HG00423.hp2
others(85): Show 
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00735.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02738.hp2
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03490.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18956.hp1
NA18957.hp1
NA18962.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18990.hp2
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19062.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA20129.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-5242dupT
c.149-5242dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 C
C
 CTT
CTT
 24 a0001c0001t0002g0021
a0001c0001t0004g0001
a0001c0001t0004g0091
others(21): Show 
a0001c0001t0002g0021
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0144
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0022g0164
a0001c0004t0004g0166
a0001c0004t0004g0195
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0010g0315
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
a0001c0017t0002g0165
a0001c0017t0002g0226
 24 HG01496.hp2
HG02145.hp1
HG02615.hp2
others(21): Show 
HG01496.hp2
HG02145.hp1
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03942.hp1
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18987.hp2
NA18993.hp1
NA18994.hp1
NA19043.hp1
NA19055.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp2
NA19082.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-5243_149-5242d
others(4): Show 
c.149-5243_149-5242dupTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 C
C
 CTTTTTT
CTTTTTT
 29 a0001c0001t0001g0087
a0001c0001t0004g0070
a0001c0002t0001g0065
others(26): Show 
a0001c0001t0001g0087
a0001c0001t0004g0070
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0111
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0335
a0001c0002t0001g0359
a0001c0002t0005g0122
a0001c0002t0006g0313
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0007t0001g0081
a0001c0007t0001g0192
 29 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(26): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00735.hp1
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01192.hp2
HG02083.hp1
HG02293.hp2
HG02300.hp1
HG02602.hp2
HG02683.hp1
HG03017.hp2
HG03669.hp1
HG04115.hp1
NA18959.hp2
NA18963.hp1
NA18971.hp1
NA18992.hp2
NA18993.hp2
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19081.hp1
NA19085.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-5247_149-5242d
others(8): Show 
c.149-5247_149-5242dupTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 C
C
 CTTTTTTT
CTTTTTTT
 32 a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
others(29): Show 
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0077
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0146
a0001c0002t0001g0307
a0001c0002t0001g0312
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0004g0101
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0148
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0284
a0001c0002t0006g0328
a0001c0002t0029g0339
a0001c0002t0047g0279
a0001c0007t0001g0119
a0001c0007t0001g0222
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0037g0011
a0001c0021t0001g0197
 32 HG00558.hp2
HG00639.hp1
HG00639.hp2
others(29): Show 
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG01433.hp1
HG01993.hp1
HG02004.hp2
HG02071.hp1
HG02155.hp1
HG02165.hp1
HG02486.hp1
HG02698.hp1
HG03704.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp1
NA18978.hp2
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19074.hp2
NA19076.hp2
NA19086.hp1
 intron_variant MODIFIER c.149-5248_149-5242d
others(9): Show 
c.149-5248_149-5242dupTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 15 a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0115
others(12): Show 
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0115
a0001c0002t0001g0124
a0001c0002t0001g0273
a0001c0002t0001g0337
a0001c0002t0006g0116
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0158
a0001c0002t0006g0160
a0001c0002t0006g0278
a0001c0002t0006g0299
a0001c0002t0048g0025
a0005c0028t0001g0006
 15 HG00140.hp1
HG01123.hp1
HG01257.hp1
others(12): Show 
HG00140.hp1
HG01123.hp1
HG01257.hp1
HG01943.hp2
HG01952.hp1
HG02004.hp1
HG02135.hp1
HG02257.hp1
HG02273.hp2
HG03654.hp2
NA18962.hp1
NA18964.hp2
NA18970.hp2
NA18983.hp1
NA19082.hp1
 intron_variant MODIFIER c.149-5249_149-5242d
others(10): Show 
c.149-5249_149-5242dupTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 7 a0001c0002t0006g0157
a0001c0002t0006g0159
a0001c0002t0006g0281
others(4): Show 
a0001c0002t0006g0157
a0001c0002t0006g0159
a0001c0002t0006g0281
a0001c0002t0006g0314
a0001c0007t0013g0108
a0001c0007t0013g0137
a0010c0034t0001g0002
 7 HG01175.hp1
HG01361.hp1
HG01975.hp2
others(4): Show 
HG01175.hp1
HG01361.hp1
HG01975.hp2
HG01981.hp2
HG02040.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-5250_149-5242d
others(11): Show 
c.149-5250_149-5242dupTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 2 a0001c0002t0001g0186
a0001c0007t0001g0302
a0001c0002t0001g0186
a0001c0007t0001g0302
 2 HG01256.hp2
HG02080.hp2
HG01256.hp2
HG02080.hp2
 intron_variant MODIFIER c.149-5251_149-5242d
others(12): Show 
c.149-5251_149-5242dupTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 CT
CT
 C
C
 16 a0001c0001t0002g0015
a0001c0001t0002g0293
a0001c0001t0018g0180
others(13): Show 
a0001c0001t0002g0015
a0001c0001t0002g0293
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0003t0009g0236
a0001c0005t0025g0240
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0026g0364
a0001c0018t0007g0112
a0001c0018t0042g0027
a0002c0006t0003g0151
a0002c0006t0003g0200
 16 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(13): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02818.hp1
HG02886.hp1
HG02976.hp2
HG03516.hp2
HG04204.hp1
NA18940.hp1
NA18954.hp1
NA18994.hp2
NA19083.hp1
NA20300.hp1
 intron_variant MODIFIER c.149-5242delT
c.149-5242delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 CTT
CTT
 C
C
 74 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(71): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0254
a0001c0005t0025g0250
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0230
a0001c0016t0005g0099
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0016
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0006c0027t0003g0075
a0007c0024t0009g0232
 74 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(71): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.149-5243_149-5242d
others(4): Show 
c.149-5243_149-5242delTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593823 CTTT
CTTT
 C
C
 14 a0001c0001t0005g0221
a0001c0003t0003g0356
a0001c0003t0009g0235
others(11): Show 
a0001c0001t0005g0221
a0001c0003t0003g0356
a0001c0003t0009g0235
a0001c0005t0008g0041
a0001c0005t0008g0056
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0009t0007g0288
a0001c0011t0023g0229
a0001c0016t0005g0064
a0002c0006t0003g0014
a0002c0006t0003g0141
 14 HG01168.hp2
HG01169.hp2
HG02258.hp2
others(11): Show 
HG01168.hp2
HG01169.hp2
HG02258.hp2
HG02486.hp2
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp2
HG03654.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp1
NA19056.hp2
 intron_variant MODIFIER c.149-5244_149-5242d
others(5): Show 
c.149-5244_149-5242delTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54593823
chr2:54593836 T
T
 A
A
 1 a0001c0002t0001g0308
a0001c0002t0001g0308
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.149-5256T>A
c.149-5256T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593836
chr2:54593849 T
T
 G
G
 1 a0001c0002t0001g0308
a0001c0002t0001g0308
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.149-5243T>G
c.149-5243T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593849
chr2:54593873 G
G
 A
A
 5 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(2): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0010g0238
 5 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(2): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG02970.hp1
HG06807.hp1
 intron_variant MODIFIER c.149-5219G>A
c.149-5219G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593873
chr2:54593879 G
G
 T
T
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.149-5213G>T
c.149-5213G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593879
chr2:54593919 C
C
 T
T
 3 a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
a0001c0001t0002g0123
a0001c0001t0002g0293
a0001c0001t0002g0338
 3 HG02083.hp2
NA18954.hp1
NA18964.hp1
HG02083.hp2
NA18954.hp1
NA18964.hp1
 intron_variant MODIFIER c.149-5173C>T
c.149-5173C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593919
chr2:54593953 C
C
 T
T
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.149-5139C>T
c.149-5139C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54593953
chr2:54594021 C
C
 T
T
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-5071C>T
c.149-5071C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594021
chr2:54594171 GTGGATGA
others(11): Show 
GTGGATGAGAACCAGGGCT
 G
G
 1 a0001c0002t0001g0308
a0001c0002t0001g0308
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.149-4920_149-4903d
others(20): Show 
c.149-4920_149-4903delTGGATGAGAACCAGGGCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594171
chr2:54594245 GGATT
GGATT
 G
G
 131 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(128): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 131 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(128): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-4842_149-4839d
others(6): Show 
c.149-4842_149-4839delGATT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594245
chr2:54594248 T
T
 C
C
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.149-4844T>C
c.149-4844T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594248
chr2:54594360 A
A
 G
G
 1 a0001c0002t0046g0332
a0001c0002t0046g0332
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.149-4732A>G
c.149-4732A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594360
chr2:54594376 C
C
 T
T
 2 a0001c0004t0004g0209
a0003c0031t0004g0063
a0001c0004t0004g0209
a0003c0031t0004g0063
 2 NA18955.hp1
NA19082.hp2
NA18955.hp1
NA19082.hp2
 intron_variant MODIFIER c.149-4716C>T
c.149-4716C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594376
chr2:54594378 G
G
 A
A
 131 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(128): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 131 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(128): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-4714G>A
c.149-4714G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594378
chr2:54594381 G
G
 A
A
 131 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(128): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 131 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(128): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-4711G>A
c.149-4711G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594381
chr2:54594398 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-4694A>G
c.149-4694A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594398
chr2:54594483 C
C
 T
T
 1 a0001c0004t0035g0042
a0001c0004t0035g0042
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.149-4609C>T
c.149-4609C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594483
chr2:54594532 G
G
 A
A
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.149-4560G>A
c.149-4560G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594532
chr2:54594567 G
G
 T
T
 283 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(280): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 283 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(280): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-4525G>T
c.149-4525G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594567
chr2:54594590 A
A
 G
G
 1 a0001c0010t0002g0140
a0001c0010t0002g0140
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.149-4502A>G
c.149-4502A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594590
chr2:54594624 T
T
 G
G
 3 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
 3 HG02738.hp2
HG03669.hp2
NA20905.hp2
HG02738.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.149-4468T>G
c.149-4468T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594624
chr2:54594699 C
C
 T
T
 7 a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
others(4): Show 
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 7 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(4): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.149-4393C>T
c.149-4393C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594699
chr2:54594833 C
C
 CTTT
CTTT
 59 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(56): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0204
a0001c0002t0001g0273
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0116
a0001c0002t0006g0149
a0001c0002t0006g0155
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0010c0034t0001g0002
 59 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(56): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp1
HG02293.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18946.hp2
NA18951.hp1
NA18959.hp2
NA18964.hp2
NA18970.hp2
NA18977.hp1
NA18978.hp2
NA18986.hp2
NA18989.hp2
NA18992.hp2
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19074.hp2
NA19081.hp1
NA19085.hp1
NA20752.hp2
 intron_variant MODIFIER c.149-4243_149-4241d
others(5): Show 
c.149-4243_149-4241dupTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTT
CTTTT
 24 a0001c0001t0003g0223
a0001c0002t0001g0010
a0001c0002t0001g0028
others(21): Show 
a0001c0001t0003g0223
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0274
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0325
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0007t0001g0119
a0001c0014t0001g0013
a0005c0028t0001g0006
 24 HG01255.hp2
HG02080.hp2
HG02165.hp1
others(21): Show 
HG01255.hp2
HG02080.hp2
HG02165.hp1
HG02300.hp1
NA18944.hp2
NA18956.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18985.hp2
NA18987.hp1
NA18993.hp2
NA18998.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19076.hp2
NA19082.hp1
NA19086.hp1
NA19088.hp2
 intron_variant MODIFIER c.149-4244_149-4241d
others(6): Show 
c.149-4244_149-4241dupTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTT
CTTTTTT
 56 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(53): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0036g0361
a0001c0005t0011g0253
a0001c0009t0007g0288
a0001c0011t0003g0171
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
 56 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG02015.hp2
HG02055.hp2
HG02135.hp2
HG02258.hp2
HG02280.hp1
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19084.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.149-4246_149-4241d
others(8): Show 
c.149-4246_149-4241dupTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
CTTTTTTT
 17 a0001c0003t0003g0036
a0001c0003t0009g0227
a0001c0003t0009g0235
others(14): Show 
a0001c0003t0003g0036
a0001c0003t0009g0227
a0001c0003t0009g0235
a0001c0005t0021g0052
a0001c0008t0005g0046
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0228
a0001c0011t0023g0230
a0001c0018t0042g0027
 17 HG00280.hp1
HG01106.hp2
HG01167.hp1
others(14): Show 
HG00280.hp1
HG01106.hp2
HG01167.hp1
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02109.hp1
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02738.hp1
HG02809.hp1
HG03491.hp1
HG03492.hp2
NA18941.hp2
NA19056.hp2
 intron_variant MODIFIER c.149-4247_149-4241d
others(9): Show 
c.149-4247_149-4241dupTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 21 a0001c0001t0018g0180
a0001c0003t0009g0233
a0001c0003t0009g0234
others(18): Show 
a0001c0001t0018g0180
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0033g0172
a0001c0004t0004g0264
a0001c0005t0008g0049
a0001c0005t0031g0187
a0001c0007t0013g0043
a0001c0008t0005g0045
a0001c0008t0005g0243
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0029t0007g0290
a0007c0024t0009g0232
 21 HG01257.hp2
HG01346.hp2
HG02055.hp1
others(18): Show 
HG01257.hp2
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18954.hp2
NA18982.hp1
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-4248_149-4241d
others(10): Show 
c.149-4248_149-4241dupTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 48 a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
others(45): Show 
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0125
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0019g0241
a0001c0003t0003g0304
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0218
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0348
a0001c0007t0013g0044
a0001c0008t0005g0244
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 48 HG00323.hp1
HG00438.hp2
HG00741.hp2
others(45): Show 
HG00323.hp1
HG00438.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp2
HG02280.hp2
HG02683.hp2
HG02738.hp2
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
NA18940.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19030.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19088.hp1
NA19091.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-4249_149-4241d
others(11): Show 
c.149-4249_149-4241dupTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 15 a0001c0001t0004g0093
a0001c0001t0004g0129
a0001c0004t0004g0098
others(12): Show 
a0001c0001t0004g0093
a0001c0001t0004g0129
a0001c0004t0004g0098
a0001c0004t0004g0132
a0001c0004t0004g0193
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0317
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0010g0315
a0001c0004t0035g0042
a0001c0005t0008g0269
a0001c0012t0016g0026
a0001c0013t0015g0258
 15 HG00609.hp1
HG01192.hp1
HG02145.hp1
others(12): Show 
HG00609.hp1
HG01192.hp1
HG02145.hp1
HG02647.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03225.hp1
HG03471.hp1
HG04184.hp1
NA18906.hp1
NA18945.hp2
NA18979.hp1
NA19082.hp2
NA20129.hp1
 intron_variant MODIFIER c.149-4250_149-4241d
others(12): Show 
c.149-4250_149-4241dupTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 3 a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 3 HG02809.hp2
HG02895.hp2
NA19030.hp1
HG02809.hp2
HG02895.hp2
NA19030.hp1
 intron_variant MODIFIER c.149-4251_149-4241d
others(13): Show 
c.149-4251_149-4241dupTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.149-4252_149-4241d
others(14): Show 
c.149-4252_149-4241dupTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 1 a0001c0004t0004g0071
a0001c0004t0004g0071
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.149-4255_149-4241d
others(17): Show 
c.149-4255_149-4241dupTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 3 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
 3 HG01167.hp2
HG02451.hp2
HG06807.hp1
HG01167.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.149-4256_149-4241d
others(18): Show 
c.149-4256_149-4241dupTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 1 a0001c0005t0008g0368
a0001c0005t0008g0368
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.149-4257_149-4241d
others(19): Show 
c.149-4257_149-4241dupTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 1 a0001c0005t0008g0176
a0001c0005t0008g0176
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.149-4258_149-4241d
others(20): Show 
c.149-4258_149-4241dupTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-4241_149-4240i
others(24): Show 
c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0005t0011g0051
a0001c0005t0011g0051
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.149-4241_149-4240i
others(25): Show 
c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(17): Show 
CTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0005t0011g0038
a0001c0005t0011g0038
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.149-4241_149-4240i
others(26): Show 
c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(18): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0001t0010g0238
a0001c0005t0011g0254
a0001c0001t0010g0238
a0001c0005t0011g0254
 2 HG02572.hp1
HG02970.hp1
HG02572.hp1
HG02970.hp1
 intron_variant MODIFIER c.149-4241_149-4240i
others(27): Show 
c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(24): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0008g0041
a0001c0005t0021g0040
 2 HG02486.hp2
HG02818.hp2
HG02486.hp2
HG02818.hp2
 intron_variant MODIFIER c.149-4241_149-4240i
others(33): Show 
c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(27): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0005t0008g0048
a0001c0005t0008g0062
a0001c0005t0008g0048
a0001c0005t0008g0062
 2 HG02886.hp2
HG03579.hp1
HG02886.hp2
HG03579.hp1
 intron_variant MODIFIER c.149-4241_149-4240i
others(36): Show 
c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594833 C
C
 CTTTTTTT
others(29): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0005t0008g0050
a0001c0005t0008g0050
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.149-4241_149-4240i
others(38): Show 
c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54594833
chr2:54594851 T
T
 TTTTTTTT
others(1): Show 
TTTTTTTTG
 11 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
others(8): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
a0001c0005t0003g0190
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0252
 11 HG01109.hp2
HG02258.hp1
HG02630.hp1
others(8): Show 
HG01109.hp2
HG02258.hp1
HG02630.hp1
HG02886.hp1
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-4241_149-4240i
others(10): Show 
c.149-4241_149-4240insTTTTTTTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54594851
chr2:54595093 A
A
 C
C
 1 a0001c0002t0001g0147
a0001c0002t0001g0147
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.149-3999A>C
c.149-3999A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595093
chr2:54595093 A
A
 T
T
 2 a0001c0001t0005g0291
a0001c0001t0005g0344
a0001c0001t0005g0291
a0001c0001t0005g0344
 2 HG01515.hp1
homoSapiens_chm13v2.hp1
HG01515.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.149-3999A>T
c.149-3999A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595093
chr2:54595303 C
C
 T
T
 3 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0021g0052
 3 HG02486.hp2
HG02647.hp1
HG02818.hp2
HG02486.hp2
HG02647.hp1
HG02818.hp2
 intron_variant MODIFIER c.149-3789C>T
c.149-3789C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595303
chr2:54595318 A
A
 G
G
 58 a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
others(55): Show 
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 58 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(55): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.149-3774A>G
c.149-3774A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595318
chr2:54595342 G
G
 C
C
 8 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(5): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 8 HG02145.hp2
HG02809.hp2
HG02895.hp2
others(5): Show 
HG02145.hp2
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-3750G>C
c.149-3750G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595342
chr2:54595444 C
C
 G
G
 8 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(5): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
 8 HG02615.hp2
HG03041.hp2
HG03130.hp2
others(5): Show 
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-3648C>G
c.149-3648C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595444
chr2:54595466 C
C
 A
A
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.149-3626C>A
c.149-3626C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595466
chr2:54595537 G
G
 T
T
 2 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0043
a0001c0007t0013g0044
 2 HG02145.hp2
HG03139.hp1
HG02145.hp2
HG03139.hp1
 intron_variant MODIFIER c.149-3555G>T
c.149-3555G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595537
chr2:54595544 C
C
 A
A
 8 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(5): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 8 HG02109.hp2
HG02886.hp2
HG03453.hp1
others(5): Show 
HG02109.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-3548C>A
c.149-3548C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595544
chr2:54595634 C
C
 T
T
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-3458C>T
c.149-3458C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595634
chr2:54595640 T
T
 C
C
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-3452T>C
c.149-3452T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595640
chr2:54595646 C
C
 A
A
 8 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(5): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 8 HG02109.hp2
HG02886.hp2
HG03453.hp1
others(5): Show 
HG02109.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.149-3446C>A
c.149-3446C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595646
chr2:54595677 G
G
 T
T
 1 a0001c0001t0029g0100
a0001c0001t0029g0100
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.149-3415G>T
c.149-3415G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595677
chr2:54595781 G
G
 C
C
 268 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0005g0221
others(265): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 268 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(265): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-3311G>C
c.149-3311G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595781
chr2:54595921 C
C
 T
T
 1 a0001c0009t0045g0298
a0001c0009t0045g0298
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.149-3171C>T
c.149-3171C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595921
chr2:54595922 G
G
 T
T
 13 a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
others(10): Show 
a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 13 HG01346.hp2
HG02055.hp1
HG02451.hp1
others(10): Show 
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.149-3170G>T
c.149-3170G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595922
chr2:54595957 G
G
 A
A
 19 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(16): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 19 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(16): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-3135G>A
c.149-3135G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54595957
chr2:54595993 CTACCTTT
others(3): Show 
CTACCTTTTTG
 C
C
 111 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(108): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 111 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(108): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-3080_149-3071d
others(12): Show 
c.149-3080_149-3071delTGTACCTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54595993
chr2:54596058 T
T
 C
C
 19 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(16): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 19 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(16): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-3034T>C
c.149-3034T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596058
chr2:54596077 C
C
 G
G
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-3015C>G
c.149-3015C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596077
chr2:54596172 C
C
 T
T
 1 a0001c0009t0002g0285
a0001c0009t0002g0285
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.149-2920C>T
c.149-2920C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596172
chr2:54596173 G
G
 A
A
 84 a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
others(81): Show 
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 84 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(81): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-2919G>A
c.149-2919G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596173
chr2:54596226 A
A
 G
G
 1 a0001c0005t0003g0182
a0001c0005t0003g0182
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.149-2866A>G
c.149-2866A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596226
chr2:54596226 A
A
 T
T
 8 a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0133
others(5): Show 
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0273
a0001c0002t0001g0275
a0001c0002t0001g0335
a0001c0002t0001g0337
 8 HG00140.hp1
HG00735.hp1
HG01071.hp1
others(5): Show 
HG00140.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01192.hp2
HG01257.hp1
HG02293.hp2
HG02683.hp1
 intron_variant MODIFIER c.149-2866A>T
c.149-2866A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596226
chr2:54596365 C
C
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-2727C>G
c.149-2727C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596365
chr2:54596400 A
A
 G
G
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.149-2692A>G
c.149-2692A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596400
chr2:54596448 C
C
 G
G
 1 a0001c0003t0003g0319
a0001c0003t0003g0319
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.149-2644C>G
c.149-2644C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596448
chr2:54596542 G
G
 A
A
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-2550G>A
c.149-2550G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596542
chr2:54596759 C
C
 T
T
 6 a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0193
others(3): Show 
a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 6 HG02080.hp1
NA18945.hp2
NA18957.hp1
others(3): Show 
HG02080.hp1
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA19000.hp2
NA19083.hp2
 intron_variant MODIFIER c.149-2333C>T
c.149-2333C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596759
chr2:54596807 A
A
 C
C
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-2285A>C
c.149-2285A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596807
chr2:54596976 C
C
 T
T
 1 a0001c0004t0004g0218
a0001c0004t0004g0218
 1 NA19055.hp1
NA19055.hp1
 intron_variant MODIFIER c.149-2116C>T
c.149-2116C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54596976
chr2:54597009 A
A
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-2083A>G
c.149-2083A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597009
chr2:54597013 G
G
 A
A
 1 a0001c0002t0001g0308
a0001c0002t0001g0308
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.149-2079G>A
c.149-2079G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597013
chr2:54597108 T
T
 C
C
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.149-1984T>C
c.149-1984T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597108
chr2:54597114 C
C
 T
T
 41 a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
others(38): Show 
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 41 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(38): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.149-1978C>T
c.149-1978C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597114
chr2:54597128 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-1964A>G
c.149-1964A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597128
chr2:54597212 C
C
 T
T
 50 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(47): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 50 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(47): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-1880C>T
c.149-1880C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597212
chr2:54597259 A
A
 G
G
 111 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(108): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 111 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(108): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-1833A>G
c.149-1833A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597259
chr2:54597279 C
C
 T
T
 1 a0001c0004t0004g0107
a0001c0004t0004g0107
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.149-1813C>T
c.149-1813C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597279
chr2:54597342 A
A
 G
G
 1 a0001c0001t0002g0351
a0001c0001t0002g0351
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.149-1750A>G
c.149-1750A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597342
chr2:54597555 G
G
 A
A
 5 a0001c0002t0001g0080
a0001c0002t0001g0086
a0001c0002t0001g0115
others(2): Show 
a0001c0002t0001g0080
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0001g0124
a0001c0002t0006g0089
 5 HG02083.hp1
NA18964.hp2
NA18970.hp2
others(2): Show 
HG02083.hp1
NA18964.hp2
NA18970.hp2
NA18978.hp2
NA18987.hp1
 intron_variant MODIFIER c.149-1537G>A
c.149-1537G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597555
chr2:54597562 G
G
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.149-1530G>A
c.149-1530G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597562
chr2:54597566 C
C
 T
T
 1 a0001c0008t0005g0260
a0001c0008t0005g0260
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.149-1526C>T
c.149-1526C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597566
chr2:54597588 G
G
 C
C
 1 a0001c0003t0003g0251
a0001c0003t0003g0251
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.149-1504G>C
c.149-1504G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597588
chr2:54597596 A
A
 G
G
 1 a0001c0002t0001g0080
a0001c0002t0001g0080
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.149-1496A>G
c.149-1496A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597596
chr2:54597660 C
C
 T
T
 3 a0001c0004t0010g0109
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0010g0109
a0001c0004t0010g0315
a0001c0004t0010g0348
 3 HG02145.hp1
HG03688.hp2
NA20905.hp1
HG02145.hp1
HG03688.hp2
NA20905.hp1
 intron_variant MODIFIER c.149-1432C>T
c.149-1432C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597660
chr2:54597678 G
G
 A
A
 111 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(108): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 111 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(108): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.149-1414G>A
c.149-1414G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597678
chr2:54597712 C
C
 T
T
 84 a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
others(81): Show 
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 84 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(81): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.149-1380C>T
c.149-1380C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597712
chr2:54597761 G
G
 A
A
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.149-1331G>A
c.149-1331G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54597761
chr2:54597866 C
C
 CT
CT
 10 a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
others(7): Show 
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0014g0105
a0001c0001t0022g0164
a0001c0002t0001g0326
a0001c0002t0001g0331
a0001c0012t0016g0026
a0001c0012t0016g0135
 10 HG02738.hp2
HG03225.hp1
HG04184.hp2
others(7): Show 
HG02738.hp2
HG03225.hp1
HG04184.hp2
NA18963.hp1
NA18977.hp2
NA18983.hp2
NA19000.hp1
NA19001.hp1
NA19010.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-1203dupT
c.149-1203dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54597866
chr2:54597866 CT
CT
 C
C
 86 a0001c0001t0010g0238
a0001c0002t0001g0009
a0001c0002t0001g0010
others(83): Show 
a0001c0001t0010g0238
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0307
a0001c0002t0001g0312
a0001c0002t0001g0330
a0001c0002t0001g0333
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0029g0339
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0317
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0007t0001g0081
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0021t0001g0197
a0004c0032t0004g0329
a0005c0028t0001g0006
a0010c0034t0001g0002
 86 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(83): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03654.hp2
HG03669.hp1
HG04115.hp1
HG04184.hp1
NA18612.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18957.hp1
NA18962.hp1
NA18964.hp2
NA18970.hp2
NA18978.hp2
NA18983.hp1
NA18986.hp2
NA18989.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA19002.hp1
NA19005.hp2
NA19010.hp2
NA19056.hp1
NA19064.hp2
NA19074.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA20752.hp2
 intron_variant MODIFIER c.149-1203delT
c.149-1203delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54597866
chr2:54597866 CTT
CTT
 C
C
 7 a0001c0002t0001g0334
a0001c0002t0006g0271
a0001c0004t0004g0098
others(4): Show 
a0001c0002t0001g0334
a0001c0002t0006g0271
a0001c0004t0004g0098
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0218
 7 HG02895.hp1
NA18940.hp2
NA18951.hp1
others(4): Show 
HG02895.hp1
NA18940.hp2
NA18951.hp1
NA18987.hp2
NA19055.hp1
NA19076.hp2
NA19082.hp2
 intron_variant MODIFIER c.149-1204_149-1203d
others(4): Show 
c.149-1204_149-1203delTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54597866
chr2:54597866 CTTT
CTTT
 C
C
 6 a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
others(3): Show 
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
a0001c0007t0013g0043
a0001c0007t0013g0044
a0003c0031t0004g0063
 6 HG01884.hp2
HG02145.hp2
HG02630.hp2
others(3): Show 
HG01884.hp2
HG02145.hp2
HG02630.hp2
HG02897.hp2
HG03139.hp1
NA18955.hp1
 intron_variant MODIFIER c.149-1205_149-1203d
others(5): Show 
c.149-1205_149-1203delTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54597866
chr2:54597866 CTTTT
CTTTT
 C
C
 68 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(65): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0356
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 68 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(65): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02602.hp1
HG02698.hp2
HG02738.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.149-1206_149-1203d
others(6): Show 
c.149-1206_149-1203delTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54597866
chr2:54597866 CTTTTT
CTTTTT
 C
C
 49 a0001c0001t0005g0221
a0001c0001t0018g0180
a0001c0001t0018g0303
others(46): Show 
a0001c0001t0005g0221
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0002c0006t0003g0185
 49 HG00099.hp1
HG00738.hp1
HG01106.hp1
others(46): Show 
HG00099.hp1
HG00738.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18906.hp1
NA18955.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.149-1207_149-1203d
others(7): Show 
c.149-1207_149-1203delTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54597866
chr2:54597866 CTTTTTT
CTTTTTT
 C
C
 7 a0001c0005t0003g0047
a0001c0005t0003g0191
a0001c0005t0012g0369
others(4): Show 
a0001c0005t0003g0047
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 7 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(4): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG03540.hp1
NA18522.hp2
 intron_variant MODIFIER c.149-1208_149-1203d
others(8): Show 
c.149-1208_149-1203delTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54597866
chr2:54597866 CTTTTTTT
CTTTTTTT
 C
C
 6 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
others(3): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0034g0003
 6 HG03041.hp2
HG03130.hp2
HG03225.hp2
others(3): Show 
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-1209_149-1203d
others(9): Show 
c.149-1209_149-1203delTTTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54597866
chr2:54598259 T
T
 G
G
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.149-833T>G
c.149-833T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54598259
chr2:54598265 A
A
 G
G
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.149-827A>G
c.149-827A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54598265
chr2:54598468 CT
CT
 C
C
 263 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(260): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 263 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(260): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.149-620delT
c.149-620delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 INFO_REALIGN_3_PRIME chr2 54598468
chr2:54598553 C
C
 T
T
 1 a0001c0001t0002g0007
a0001c0001t0002g0007
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.149-539C>T
c.149-539C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54598553
chr2:54598574 G
G
 A
A
 2 a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0002g0163
a0001c0001t0002g0210
 2 HG01255.hp1
NA20752.hp1
HG01255.hp1
NA20752.hp1
 intron_variant MODIFIER c.149-518G>A
c.149-518G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54598574
chr2:54598588 C
C
 T
T
 7 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(4): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0217
a0001c0001t0002g0349
 7 NA18944.hp1
NA18946.hp1
NA18950.hp2
others(4): Show 
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18963.hp2
NA18971.hp2
NA18978.hp1
NA19058.hp1
 intron_variant MODIFIER c.149-504C>T
c.149-504C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54598588
chr2:54598794 A
A
 G
G
 2 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0002g0249
a0001c0001t0002g0367
 2 HG02717.hp1
HG02922.hp1
HG02717.hp1
HG02922.hp1
 intron_variant MODIFIER c.149-298A>G
c.149-298A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54598794
chr2:54599017 T
T
 G
G
 1 a0001c0009t0007g0272
a0001c0009t0007g0272
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.149-75T>G
c.149-75T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54599017
chr2:54599030 G
G
 A
A
 1 a0001c0005t0025g0240
a0001c0005t0025g0240
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.149-62G>A
c.149-62G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 2/35 chr2 54599030
chr2:54599311 C
C
 G
G
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.300+68C>G
c.300+68C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54599311
chr2:54599563 T
T
 G
G
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.300+320T>G
c.300+320T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54599563
chr2:54599743 T
T
 C
C
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.300+500T>C
c.300+500T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54599743
chr2:54599864 G
G
 T
T
 52 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(49): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0002t0001g0335
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 52 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(49): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.300+621G>T
c.300+621G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54599864
chr2:54599909 A
A
 G
G
 6 a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
others(3): Show 
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
 6 HG00438.hp2
HG00609.hp1
NA19062.hp1
others(3): Show 
HG00438.hp2
HG00609.hp1
NA19062.hp1
NA19066.hp2
NA19079.hp1
NA19088.hp1
 intron_variant MODIFIER c.300+666A>G
c.300+666A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54599909
chr2:54599942 A
A
 G
G
 287 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0349
others(284): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0349
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 287 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(284): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+699A>G
c.300+699A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54599942
chr2:54599992 A
A
 G
G
 1 a0001c0001t0005g0341
a0001c0001t0005g0341
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.300+749A>G
c.300+749A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54599992
chr2:54600121 T
T
 G
G
 1 a0001c0015t0002g0220
a0001c0015t0002g0220
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.300+878T>G
c.300+878T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600121
chr2:54600182 C
C
 T
T
 1 a0001c0002t0001g0077
a0001c0002t0001g0077
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.300+939C>T
c.300+939C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600182
chr2:54600223 T
T
 C
C
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.300+980T>C
c.300+980T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600223
chr2:54600277 G
G
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.300+1034G>C
c.300+1034G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600277
chr2:54600428 T
T
 C
C
 5 a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
others(2): Show 
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
 5 HG00735.hp2
HG01978.hp1
HG02293.hp1
others(2): Show 
HG00735.hp2
HG01978.hp1
HG02293.hp1
NA18941.hp1
NA18970.hp1
 intron_variant MODIFIER c.300+1185T>C
c.300+1185T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600428
chr2:54600453 AC
AC
 A
A
 6 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(3): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(3): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.300+1214delC
c.300+1214delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54600453
chr2:54600461 T
T
 C
C
 6 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(3): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(3): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.300+1218T>C
c.300+1218T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600461
chr2:54600487 C
C
 T
T
 6 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(3): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(3): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.300+1244C>T
c.300+1244C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600487
chr2:54600608 A
A
 G
G
 19 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(16): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 19 HG01346.hp2
HG02109.hp2
HG02486.hp2
others(16): Show 
HG01346.hp2
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.300+1365A>G
c.300+1365A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600608
chr2:54600714 A
A
 AT
AT
 112 a0001c0001t0002g0007
a0001c0001t0002g0090
a0001c0001t0002g0094
others(109): Show 
a0001c0001t0002g0007
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0093
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0002t0001g0086
a0001c0002t0001g0204
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0281
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0004t0004g0107
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0007c0024t0009g0232
a0008c0030t0030g0174
 112 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(109): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00438.hp1
HG00738.hp2
HG00741.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18990.hp2
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.300+1487dupT
c.300+1487dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54600714
chr2:54600729 T
T
 G
G
 1 a0001c0002t0006g0271
a0001c0002t0006g0271
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.300+1486T>G
c.300+1486T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600729
chr2:54600796 G
G
 A
A
 268 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(265): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 268 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(265): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+1553G>A
c.300+1553G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600796
chr2:54600821 G
G
 GT
GT
 6 a0001c0001t0002g0349
a0001c0001t0014g0104
a0001c0001t0014g0105
others(3): Show 
a0001c0001t0002g0349
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0003t0003g0305
a0001c0004t0007g0057
 6 HG02647.hp2
HG02738.hp2
HG03098.hp1
others(3): Show 
HG02647.hp2
HG02738.hp2
HG03098.hp1
HG03669.hp2
NA19058.hp1
NA20905.hp2
 intron_variant MODIFIER c.300+1590dupT
c.300+1590dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54600821
chr2:54600821 G
G
 T
T
 1 a0001c0001t0005g0291
a0001c0001t0005g0291
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.300+1578G>T
c.300+1578G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54600821
chr2:54601023 A
A
 G
G
 1 a0007c0024t0009g0232
a0007c0024t0009g0232
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.300+1780A>G
c.300+1780A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601023
chr2:54601198 T
T
 A
A
 7 a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
others(4): Show 
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 7 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(4): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.300+1955T>A
c.300+1955T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601198
chr2:54601300 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.300+2057C>T
c.300+2057C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601300
chr2:54601447 A
A
 G
G
 1 a0001c0003t0003g0008
a0001c0003t0003g0008
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.300+2204A>G
c.300+2204A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601447
chr2:54601485 C
C
 T
T
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.300+2242C>T
c.300+2242C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601485
chr2:54601529 A
A
 C
C
 18 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(15): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 18 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(15): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.300+2286A>C
c.300+2286A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601529
chr2:54601592 A
A
 G
G
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.300+2349A>G
c.300+2349A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601592
chr2:54601761 T
T
 C
C
 1 a0001c0013t0015g0259
a0001c0013t0015g0259
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.300+2518T>C
c.300+2518T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601761
chr2:54601806 C
C
 T
T
 267 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(264): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 267 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(264): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+2563C>T
c.300+2563C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601806
chr2:54601865 A
A
 G
G
 3 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
 3 HG02738.hp2
HG03669.hp2
NA20905.hp2
HG02738.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.300+2622A>G
c.300+2622A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54601865
chr2:54602133 A
A
 T
T
 46 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(43): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0026t0006g0102
a0007c0024t0009g0232
 46 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(43): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00438.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02109.hp1
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.300+2890A>T
c.300+2890A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602133
chr2:54602232 T
T
 G
G
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.300+2989T>G
c.300+2989T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602232
chr2:54602321 G
G
 C
C
 98 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(95): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0026t0006g0102
a0001c0029t0007g0290
a0007c0024t0009g0232
a0008c0030t0030g0174
 98 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00438.hp1
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+3078G>C
c.300+3078G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602321
chr2:54602363 G
G
 A
A
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.300+3120G>A
c.300+3120G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602363
chr2:54602459 C
C
 G
G
 108 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(105): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0007c0024t0009g0232
a0008c0030t0030g0174
 108 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00438.hp1
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+3216C>G
c.300+3216C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602459
chr2:54602459 C
C
 T
T
 3 a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0261
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0261
 3 HG02109.hp1
HG02965.hp1
HG03098.hp2
HG02109.hp1
HG02965.hp1
HG03098.hp2
 intron_variant MODIFIER c.300+3216C>T
c.300+3216C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602459
chr2:54602514 A
A
 G
G
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.300+3271A>G
c.300+3271A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602514
chr2:54602530 T
T
 A
A
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.300+3287T>A
c.300+3287T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602530
chr2:54602594 A
A
 C
C
 129 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(126): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 129 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(126): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+3351A>C
c.300+3351A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602594
chr2:54602607 C
C
 A
A
 7 a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
others(4): Show 
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
 7 HG02071.hp1
HG02135.hp1
HG02155.hp1
others(4): Show 
HG02071.hp1
HG02135.hp1
HG02155.hp1
NA18612.hp1
NA18951.hp1
NA18986.hp2
NA19010.hp2
 intron_variant MODIFIER c.300+3364C>A
c.300+3364C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602607
chr2:54602625 G
G
 A
A
 13 a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
others(10): Show 
a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 13 HG01346.hp2
HG02055.hp1
HG02451.hp1
others(10): Show 
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.300+3382G>A
c.300+3382G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602625
chr2:54602679 A
A
 G
G
 1 a0001c0001t0019g0241
a0001c0001t0019g0241
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.300+3436A>G
c.300+3436A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602679
chr2:54602763 T
T
 G
G
 1 a0001c0005t0011g0038
a0001c0005t0011g0038
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.300+3520T>G
c.300+3520T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54602763
chr2:54603252 C
C
 G
G
 2 a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0002g0163
a0001c0001t0002g0210
 2 HG01255.hp1
NA20752.hp1
HG01255.hp1
NA20752.hp1
 intron_variant MODIFIER c.300+4009C>G
c.300+4009C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603252
chr2:54603270 T
T
 TG
TG
 86 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(83): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 86 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(83): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.300+4029dupG
c.300+4029dupG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54603270
chr2:54603286 C
C
 T
T
 18 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(15): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 18 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(15): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.300+4043C>T
c.300+4043C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603286
chr2:54603301 G
G
 A
A
 94 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(91): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 94 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(91): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.300+4058G>A
c.300+4058G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603301
chr2:54603432 C
C
 T
T
 13 a0001c0001t0018g0180
a0001c0001t0019g0241
a0001c0008t0005g0045
others(10): Show 
a0001c0001t0018g0180
a0001c0001t0019g0241
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 13 HG01346.hp2
HG02055.hp1
HG02280.hp2
others(10): Show 
HG01346.hp2
HG02055.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.300+4189C>T
c.300+4189C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603432
chr2:54603464 G
G
 A
A
 2 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0026
a0001c0012t0016g0135
 2 HG03225.hp1
NA19030.hp1
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.300+4221G>A
c.300+4221G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603464
chr2:54603479 G
G
 A
A
 114 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(111): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 114 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(111): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+4236G>A
c.300+4236G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603479
chr2:54603534 C
C
 T
T
 82 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(79): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 82 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.300+4291C>T
c.300+4291C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603534
chr2:54603535 G
G
 A
A
 1 a0001c0001t0005g0343
a0001c0001t0005g0343
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.300+4292G>A
c.300+4292G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603535
chr2:54603548 T
T
 C
C
 285 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(282): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 285 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(282): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+4305T>C
c.300+4305T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603548
chr2:54603550 G
G
 C
C
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.300+4307G>C
c.300+4307G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603550
chr2:54603729 A
A
 G
G
 7 a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
others(4): Show 
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0033t0007g0248
 7 HG01071.hp2
HG01081.hp2
HG01981.hp1
others(4): Show 
HG01071.hp2
HG01081.hp2
HG01981.hp1
HG02145.hp1
HG03688.hp2
HG03927.hp1
NA20905.hp1
 intron_variant MODIFIER c.300+4486A>G
c.300+4486A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603729
chr2:54603876 A
A
 C
C
 46 a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0014g0104
others(43): Show 
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0013t0015g0255
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 46 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(43): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp1
HG03209.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG04204.hp2
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.300+4633A>C
c.300+4633A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603876
chr2:54603965 T
T
 C
C
 28 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(25): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0031g0187
a0001c0005t0043g0039
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 28 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(25): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp2
 intron_variant MODIFIER c.300+4722T>C
c.300+4722T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54603965
chr2:54604206 G
G
 T
T
 268 a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0003g0059
others(265): Show 
a0001c0001t0002g0163
a0001c0001t0002g0210
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 268 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(265): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+4963G>T
c.300+4963G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54604206
chr2:54604282 T
T
 C
C
 1 a0001c0002t0006g0281
a0001c0002t0006g0281
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.300+5039T>C
c.300+5039T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54604282
chr2:54604333 A
A
 T
T
 1 a0001c0001t0022g0118
a0001c0001t0022g0118
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.300+5090A>T
c.300+5090A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54604333
chr2:54604734 G
G
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.300+5491G>A
c.300+5491G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54604734
chr2:54604738 A
A
 G
G
 133 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(130): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 133 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(130): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.300+5495A>G
c.300+5495A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54604738
chr2:54604746 A
A
 G
G
 14 a0001c0001t0018g0180
a0001c0005t0031g0187
a0001c0008t0005g0045
others(11): Show 
a0001c0001t0018g0180
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 14 HG01346.hp2
HG02055.hp1
HG02451.hp1
others(11): Show 
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.300+5503A>G
c.300+5503A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54604746
chr2:54605022 G
G
 T
T
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.300+5779G>T
c.300+5779G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605022
chr2:54605157 G
G
 A
A
 1 a0001c0002t0001g0111
a0001c0002t0001g0111
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.300+5914G>A
c.300+5914G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605157
chr2:54605260 C
C
 T
T
 3 a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0035g0042
 3 HG02647.hp2
HG02922.hp2
NA20129.hp1
HG02647.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.300+6017C>T
c.300+6017C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605260
chr2:54605353 C
C
 T
T
 1 a0001c0003t0036g0361
a0001c0003t0036g0361
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.300+6110C>T
c.300+6110C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605353
chr2:54605415 A
A
 G
G
 1 a0001c0002t0006g0281
a0001c0002t0006g0281
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.300+6172A>G
c.300+6172A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605415
chr2:54605614 C
C
 A
A
 74 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(71): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 74 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(71): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.300+6371C>A
c.300+6371C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605614
chr2:54605644 A
A
 G
G
 1 a0001c0001t0002g0350
a0001c0001t0002g0350
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.300+6401A>G
c.300+6401A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605644
chr2:54605747 G
G
 A
A
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.301-6414G>A
c.301-6414G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605747
chr2:54605780 A
A
 C
C
 369 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(366): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0322
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0353
a0001c0001t0005g0354
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0021t0001g0197
a0001c0023t0005g0283
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0009c0022t0051g0078
a0010c0034t0001g0002
 369 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(366): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.301-6381A>C
c.301-6381A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605780
chr2:54605912 T
T
 C
C
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.301-6249T>C
c.301-6249T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605912
chr2:54605943 A
A
 G
G
 90 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(87): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 90 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.301-6218A>G
c.301-6218A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54605943
chr2:54606050 G
G
 A
A
 56 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(53): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0029t0007g0290
a0008c0030t0030g0174
 56 HG00738.hp1
HG01106.hp2
HG01109.hp2
others(53): Show 
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01346.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03942.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.301-6111G>A
c.301-6111G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54606050
chr2:54606134 C
C
 G
G
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.301-6027C>G
c.301-6027C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54606134
chr2:54606640 AC
AC
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.301-5520delC
c.301-5520delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54606640
chr2:54606673 G
G
 A
A
 1 a0001c0004t0004g0318
a0001c0004t0004g0318
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.301-5488G>A
c.301-5488G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54606673
chr2:54606724 G
G
 T
T
 1 a0001c0004t0007g0055
a0001c0004t0007g0055
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.301-5437G>T
c.301-5437G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54606724
chr2:54606730 G
G
 A
A
 3 a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0170
 3 HG00323.hp1
HG00741.hp2
HG01496.hp2
HG00323.hp1
HG00741.hp2
HG01496.hp2
 intron_variant MODIFIER c.301-5431G>A
c.301-5431G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54606730
chr2:54606736 G
G
 A
A
 1 a0002c0006t0003g0141
a0002c0006t0003g0141
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.301-5425G>A
c.301-5425G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54606736
chr2:54606850 C
C
 T
T
 1 a0001c0001t0004g0142
a0001c0001t0004g0142
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.301-5311C>T
c.301-5311C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54606850
chr2:54607232 A
A
 G
G
 1 a0001c0001t0002g0018
a0001c0001t0002g0018
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.301-4929A>G
c.301-4929A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54607232
chr2:54607243 G
G
 A
A
 99 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(96): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 99 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(96): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.301-4918G>A
c.301-4918G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54607243
chr2:54607507 C
C
 T
T
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.301-4654C>T
c.301-4654C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54607507
chr2:54607562 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.301-4599C>T
c.301-4599C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54607562
chr2:54607616 C
C
 CA
CA
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02145.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG03139.hp1
NA20300.hp1
 intron_variant MODIFIER c.301-4535dupA
c.301-4535dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54607616
chr2:54607702 G
G
 A
A
 92 a0001c0001t0018g0180
a0001c0002t0001g0009
a0001c0002t0001g0010
others(89): Show 
a0001c0001t0018g0180
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 92 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(89): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03017.hp2
HG03471.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.301-4459G>A
c.301-4459G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54607702
chr2:54607900 A
A
 G
G
 1 a0001c0001t0004g0213
a0001c0001t0004g0213
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.301-4261A>G
c.301-4261A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54607900
chr2:54607933 G
G
 A
A
 1 a0001c0004t0010g0348
a0001c0004t0010g0348
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.301-4228G>A
c.301-4228G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54607933
chr2:54608118 C
C
 T
T
 1 a0001c0004t0004g0071
a0001c0004t0004g0071
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.301-4043C>T
c.301-4043C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608118
chr2:54608157 G
G
 C
C
 187 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0004g0091
others(184): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0010c0034t0001g0002
 187 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(184): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18951.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.301-4004G>C
c.301-4004G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608157
chr2:54608241 G
G
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.301-3920G>A
c.301-3920G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608241
chr2:54608311 G
G
 A
A
 8 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(5): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 8 HG02109.hp2
HG02886.hp2
HG03453.hp1
others(5): Show 
HG02109.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.301-3850G>A
c.301-3850G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608311
chr2:54608395 C
C
 T
T
 9 a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
others(6): Show 
a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 9 HG02055.hp1
HG02451.hp1
HG02615.hp1
others(6): Show 
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.301-3766C>T
c.301-3766C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608395
chr2:54608496 C
C
 G
G
 19 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(16): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 19 HG01346.hp2
HG02109.hp2
HG02486.hp2
others(16): Show 
HG01346.hp2
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.301-3665C>G
c.301-3665C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608496
chr2:54608666 A
A
 T
T
 4 a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
others(1): Show 
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
 4 HG00408.hp1
NA18956.hp2
NA19056.hp1
others(1): Show 
HG00408.hp1
NA18956.hp2
NA19056.hp1
NA19081.hp1
 intron_variant MODIFIER c.301-3495A>T
c.301-3495A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608666
chr2:54608708 G
G
 A
A
 82 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(79): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 82 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.301-3453G>A
c.301-3453G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608708
chr2:54608710 G
G
 A
A
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.301-3451G>A
c.301-3451G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54608710
chr2:54609203 G
G
 T
T
 268 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(265): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 268 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(265): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.301-2958G>T
c.301-2958G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609203
chr2:54609305 G
G
 A
A
 20 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(17): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 20 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(17): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.301-2856G>A
c.301-2856G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609305
chr2:54609307 A
A
 G
G
 1 a0001c0001t0041g0247
a0001c0001t0041g0247
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.301-2854A>G
c.301-2854A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609307
chr2:54609415 A
A
 G
G
 1 a0001c0010t0002g0140
a0001c0010t0002g0140
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.301-2746A>G
c.301-2746A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609415
chr2:54609601 C
C
 G
G
 3 a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
 3 HG01884.hp2
HG02630.hp2
HG02897.hp2
HG01884.hp2
HG02630.hp2
HG02897.hp2
 intron_variant MODIFIER c.301-2560C>G
c.301-2560C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609601
chr2:54609765 T
T
 G
G
 1 a0001c0002t0047g0279
a0001c0002t0047g0279
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.301-2396T>G
c.301-2396T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609765
chr2:54609821 T
T
 C
C
 2 a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0113
a0001c0003t0003g0138
 2 HG03579.hp2
NA19043.hp2
HG03579.hp2
NA19043.hp2
 intron_variant MODIFIER c.301-2340T>C
c.301-2340T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609821
chr2:54609866 A
A
 G
G
 24 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(21): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 24 HG01346.hp2
HG02109.hp2
HG02572.hp2
others(21): Show 
HG01346.hp2
HG02109.hp2
HG02572.hp2
HG02602.hp1
HG02886.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp2
 intron_variant MODIFIER c.301-2295A>G
c.301-2295A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609866
chr2:54609867 TTTA
TTTA
 T
T
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.301-2291_301-2289d
others(5): Show 
c.301-2291_301-2289delATT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54609867
chr2:54609969 A
A
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.301-2192A>G
c.301-2192A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54609969
chr2:54610057 T
T
 TGTTGAGG
others(19): Show 
TGTTGAGGCAAGATACACTTTTCCTTC
 67 a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
others(64): Show 
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 67 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(64): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG04204.hp2
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19030.hp1
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.301-2103_301-2078d
others(28): Show 
c.301-2103_301-2078dupGTTGAGGCAAGATACACTTTTCCTTC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54610057
chr2:54610100 G
G
 A
A
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.301-2061G>A
c.301-2061G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610100
chr2:54610237 C
C
 T
T
 1 a0001c0004t0004g0194
a0001c0004t0004g0194
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.301-1924C>T
c.301-1924C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610237
chr2:54610240 A
A
 G
G
 102 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(99): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 102 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(99): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.301-1921A>G
c.301-1921A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610240
chr2:54610251 A
A
 T
T
 1 a0002c0006t0003g0184
a0002c0006t0003g0184
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.301-1910A>T
c.301-1910A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610251
chr2:54610308 C
C
 G
G
 1 a0004c0032t0004g0329
a0004c0032t0004g0329
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.301-1853C>G
c.301-1853C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610308
chr2:54610373 C
C
 T
T
 2 a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0020g0023
a0001c0001t0020g0032
 2 NA18969.hp2
NA19066.hp1
NA18969.hp2
NA19066.hp1
 intron_variant MODIFIER c.301-1788C>T
c.301-1788C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610373
chr2:54610381 A
A
 G
G
 1 a0001c0005t0011g0038
a0001c0005t0011g0038
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.301-1780A>G
c.301-1780A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610381
chr2:54610525 A
A
 G
G
 1 a0001c0001t0002g0349
a0001c0001t0002g0349
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.301-1636A>G
c.301-1636A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610525
chr2:54610592 A
A
 T
T
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.301-1569A>T
c.301-1569A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54610592
chr2:54610597 T
T
 TA
TA
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.301-1563dupA
c.301-1563dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54610597
chr2:54611074 CTG
CTG
 C
C
 44 a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
others(41): Show 
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 44 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.301-1083_301-1082d
others(4): Show 
c.301-1083_301-1082delGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54611074
chr2:54611081 T
T
 C
C
 8 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(5): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 8 HG02109.hp2
HG02886.hp2
HG03453.hp1
others(5): Show 
HG02109.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.301-1080T>C
c.301-1080T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611081
chr2:54611156 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.301-1005G>A
c.301-1005G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611156
chr2:54611311 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.301-850G>A
c.301-850G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611311
chr2:54611370 A
A
 G
G
 8 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(5): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0036g0361
 8 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(5): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02698.hp2
 intron_variant MODIFIER c.301-791A>G
c.301-791A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611370
chr2:54611401 C
C
 T
T
 6 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(3): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(3): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.301-760C>T
c.301-760C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611401
chr2:54611416 A
A
 G
G
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.301-745A>G
c.301-745A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611416
chr2:54611452 A
A
 C
C
 38 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(35): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 38 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(35): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA20300.hp2
 intron_variant MODIFIER c.301-709A>C
c.301-709A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611452
chr2:54611454 A
A
 G
G
 3 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0008t0026g0364
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0008t0026g0364
 3 HG02055.hp2
HG02257.hp2
NA20300.hp1
HG02055.hp2
HG02257.hp2
NA20300.hp1
 intron_variant MODIFIER c.301-707A>G
c.301-707A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611454
chr2:54611465 ACTCT
ACTCT
 A
A
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0004t0004g0358
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
NA19064.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.301-689_301-686del
others(4): Show 
c.301-689_301-686delCTCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 INFO_REALIGN_3_PRIME chr2 54611465
chr2:54611474 C
C
 A
A
 38 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0004t0002g0161
others(35): Show 
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
 38 HG00741.hp2
HG01071.hp2
HG01168.hp1
others(35): Show 
HG00741.hp2
HG01071.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.301-687C>A
c.301-687C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611474
chr2:54611476 A
A
 C
C
 95 a0001c0001t0002g0239
a0001c0001t0003g0059
a0001c0001t0003g0060
others(92): Show 
a0001c0001t0002g0239
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0180
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0003t0003g0008
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0008g0056
a0001c0005t0011g0253
a0001c0005t0012g0370
a0001c0005t0031g0187
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0306
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 95 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(92): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02071.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19067.hp1
NA19081.hp2
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.301-685A>C
c.301-685A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611476
chr2:54611478 A
A
 C
C
 2 a0001c0002t0006g0276
a0001c0011t0023g0229
a0001c0002t0006g0276
a0001c0011t0023g0229
 2 HG01168.hp2
HG02071.hp1
HG01168.hp2
HG02071.hp1
 intron_variant MODIFIER c.301-683A>C
c.301-683A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611478
chr2:54611511 A
A
 G
G
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.301-650A>G
c.301-650A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611511
chr2:54611522 C
C
 T
T
 43 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0004t0002g0161
others(40): Show 
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 43 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(40): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.301-639C>T
c.301-639C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611522
chr2:54611556 T
T
 C
C
 6 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(3): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(3): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.301-605T>C
c.301-605T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611556
chr2:54611562 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.301-599G>A
c.301-599G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611562
chr2:54611587 T
T
 A
A
 8 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(5): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
 8 HG01884.hp1
HG02109.hp1
HG02965.hp1
others(5): Show 
HG01884.hp1
HG02109.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
 intron_variant MODIFIER c.301-574T>A
c.301-574T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611587
chr2:54611589 C
C
 A
A
 8 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(5): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0251
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0305
a0001c0003t0003g0366
 8 HG01884.hp1
HG02109.hp1
HG02965.hp1
others(5): Show 
HG01884.hp1
HG02109.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
 intron_variant MODIFIER c.301-572C>A
c.301-572C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611589
chr2:54611643 T
T
 C
C
 4 a0001c0001t0014g0097
a0001c0001t0014g0282
a0001c0001t0041g0247
others(1): Show 
a0001c0001t0014g0097
a0001c0001t0014g0282
a0001c0001t0041g0247
a0009c0022t0051g0078
 4 HG01261.hp1
HG03490.hp1
HG03669.hp2
others(1): Show 
HG01261.hp1
HG03490.hp1
HG03669.hp2
HG03688.hp1
 intron_variant MODIFIER c.301-518T>C
c.301-518T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611643
chr2:54611722 T
T
 G
G
 102 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(99): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 102 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(99): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.301-439T>G
c.301-439T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611722
chr2:54611855 C
C
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.301-306C>T
c.301-306C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611855
chr2:54611924 T
T
 C
C
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.301-237T>C
c.301-237T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54611924
chr2:54612103 G
G
 A
A
 21 a0001c0001t0005g0221
a0001c0001t0018g0303
a0001c0001t0019g0031
others(18): Show 
a0001c0001t0005g0221
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 21 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(18): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.301-58G>A
c.301-58G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54612103
chr2:54612139 A
A
 G
G
 282 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(279): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 282 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(279): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.301-22A>G
c.301-22A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 3/35 chr2 54612139
chr2:54612381 A
A
 G
G
 4 a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
others(1): Show 
a0001c0004t0004g0205
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0267
 4 HG01192.hp1
HG01257.hp2
HG01258.hp1
others(1): Show 
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01952.hp2
 intron_variant MODIFIER c.474+47A>G
c.474+47A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54612381
chr2:54612638 A
A
 G
G
 2 a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0019t0012g0246
a0001c0019t0012g0252
 2 HG02622.hp2
HG03540.hp1
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.474+304A>G
c.474+304A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54612638
chr2:54612756 T
T
 A
A
 1 a0001c0001t0005g0354
a0001c0001t0005g0354
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.474+422T>A
c.474+422T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54612756
chr2:54612762 G
G
 A
A
 4 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(1): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
 4 NA18951.hp2
NA18992.hp1
NA19012.hp2
others(1): Show 
NA18951.hp2
NA18992.hp1
NA19012.hp2
NA19084.hp2
 intron_variant MODIFIER c.474+428G>A
c.474+428G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54612762
chr2:54612785 CAT
CAT
 C
C
 19 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(16): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 19 HG02145.hp2
HG02602.hp1
HG02809.hp2
others(16): Show 
HG02145.hp2
HG02602.hp1
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19030.hp1
NA19090.hp2
 intron_variant MODIFIER c.474+452_474+453del
others(2): Show 
c.474+452_474+453delAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54612785
chr2:54613149 A
A
 C
C
 1 a0001c0005t0031g0187
a0001c0005t0031g0187
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.474+815A>C
c.474+815A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613149
chr2:54613189 A
A
 G
G
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0005g0309
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0005g0309
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19000.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.474+855A>G
c.474+855A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613189
chr2:54613232 A
A
 G
G
 1 a0001c0001t0005g0353
a0001c0001t0005g0353
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.474+898A>G
c.474+898A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613232
chr2:54613310 GT
GT
 G
G
 262 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(259): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 262 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(259): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.474+980delT
c.474+980delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 INFO_REALIGN_3_PRIME chr2 54613310
chr2:54613357 C
C
 G
G
 1 a0001c0005t0008g0050
a0001c0005t0008g0050
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.474+1023C>G
c.474+1023C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613357
chr2:54613415 C
C
 G
G
 270 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(267): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 270 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(267): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.474+1081C>G
c.474+1081C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613415
chr2:54613446 C
C
 A
A
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+1112C>A
c.474+1112C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613446
chr2:54613600 C
C
 T
T
 1 a0001c0005t0011g0038
a0001c0005t0011g0038
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.474+1266C>T
c.474+1266C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613600
chr2:54613617 G
G
 A
A
 21 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(18): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 21 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(18): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+1283G>A
c.474+1283G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613617
chr2:54613623 C
C
 T
T
 83 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(80): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 83 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(80): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.474+1289C>T
c.474+1289C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613623
chr2:54613666 A
A
 G
G
 46 a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0014g0104
others(43): Show 
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 46 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(43): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG04204.hp2
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.474+1332A>G
c.474+1332A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613666
chr2:54613684 T
T
 C
C
 1 a0001c0001t0005g0354
a0001c0001t0005g0354
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.474+1350T>C
c.474+1350T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613684
chr2:54613802 T
T
 C
C
 2 a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0072
a0001c0004t0004g0096
 2 HG01168.hp1
HG01169.hp1
HG01168.hp1
HG01169.hp1
 intron_variant MODIFIER c.474+1468T>C
c.474+1468T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613802
chr2:54613834 T
T
 C
C
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+1500T>C
c.474+1500T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613834
chr2:54613980 A
A
 G
G
 1 a0001c0009t0002g0285
a0001c0009t0002g0285
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.474+1646A>G
c.474+1646A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54613980
chr2:54614006 G
G
 A
A
 2 a0001c0002t0001g0186
a0005c0028t0001g0006
a0001c0002t0001g0186
a0005c0028t0001g0006
 2 HG02080.hp2
NA18962.hp1
HG02080.hp2
NA18962.hp1
 intron_variant MODIFIER c.474+1672G>A
c.474+1672G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614006
chr2:54614050 G
G
 T
T
 1 a0001c0005t0034g0003
a0001c0005t0034g0003
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.474+1716G>T
c.474+1716G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614050
chr2:54614072 G
G
 A
A
 263 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(260): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 263 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(260): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.474+1738G>A
c.474+1738G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614072
chr2:54614298 C
C
 T
T
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.475-1909C>T
c.475-1909C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614298
chr2:54614493 A
A
 C
C
 2 a0001c0001t0018g0180
a0001c0005t0031g0187
a0001c0001t0018g0180
a0001c0005t0031g0187
 2 HG02818.hp1
HG03540.hp2
HG02818.hp1
HG03540.hp2
 intron_variant MODIFIER c.475-1714A>C
c.475-1714A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614493
chr2:54614598 T
T
 C
C
 21 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(18): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 21 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(18): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.475-1609T>C
c.475-1609T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614598
chr2:54614674 A
A
 G
G
 21 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(18): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 21 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(18): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.475-1533A>G
c.475-1533A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614674
chr2:54614735 G
G
 A
A
 9 a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
others(6): Show 
a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 9 HG02055.hp1
HG02451.hp1
HG02615.hp1
others(6): Show 
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.475-1472G>A
c.475-1472G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614735
chr2:54614754 G
G
 T
T
 1 a0001c0002t0005g0122
a0001c0002t0005g0122
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.475-1453G>T
c.475-1453G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614754
chr2:54614788 G
G
 C
C
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.475-1419G>C
c.475-1419G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614788
chr2:54614793 T
T
 A
A
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.475-1414T>A
c.475-1414T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614793
chr2:54614796 C
C
 CA
CA
 7 a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0004t0004g0107
others(4): Show 
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0004t0004g0107
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0011t0003g0228
 7 HG00735.hp2
HG01978.hp1
HG02293.hp1
others(4): Show 
HG00735.hp2
HG01978.hp1
HG02293.hp1
HG02738.hp1
HG03490.hp2
HG03492.hp1
NA18990.hp2
 intron_variant MODIFIER c.475-1397dupA
c.475-1397dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 INFO_REALIGN_3_PRIME chr2 54614796
chr2:54614832 G
G
 T
T
 7 a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
others(4): Show 
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 7 HG00738.hp1
HG02055.hp2
HG02257.hp2
others(4): Show 
HG00738.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.475-1375G>T
c.475-1375G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614832
chr2:54614870 G
G
 A
A
 2 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0026
a0001c0012t0016g0135
 2 HG03225.hp1
NA19030.hp1
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.475-1337G>A
c.475-1337G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614870
chr2:54614911 G
G
 A
A
 9 a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
others(6): Show 
a0001c0001t0018g0180
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 9 HG02055.hp1
HG02451.hp1
HG02615.hp1
others(6): Show 
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.475-1296G>A
c.475-1296G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614911
chr2:54614927 A
A
 T
T
 47 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(44): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 47 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.475-1280A>T
c.475-1280A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54614927
chr2:54615086 G
G
 A
A
 1 a0002c0006t0003g0016
a0002c0006t0003g0016
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.475-1121G>A
c.475-1121G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615086
chr2:54615099 T
T
 C
C
 1 a0001c0016t0005g0064
a0001c0016t0005g0064
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.475-1108T>C
c.475-1108T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615099
chr2:54615136 AT
AT
 A
A
 262 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(259): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 262 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(259): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.475-1062delT
c.475-1062delT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 INFO_REALIGN_3_PRIME chr2 54615136
chr2:54615165 C
C
 T
T
 82 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(79): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 82 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.475-1042C>T
c.475-1042C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615165
chr2:54615180 A
A
 C
C
 1 a0001c0002t0001g0121
a0001c0002t0001g0121
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.475-1027A>C
c.475-1027A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615180
chr2:54615180 A
A
 G
G
 86 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(83): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 86 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.475-1027A>G
c.475-1027A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615180
chr2:54615189 T
T
 C
C
 3 a0001c0003t0003g0320
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0320
a0001c0003t0003g0357
a0001c0003t0003g0360
 3 HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01109.hp1
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.475-1018T>C
c.475-1018T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615189
chr2:54615313 G
G
 T
T
 83 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(80): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 83 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(80): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.475-894G>T
c.475-894G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615313
chr2:54615459 G
G
 A
A
 1 a0001c0004t0007g0055
a0001c0004t0007g0055
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.475-748G>A
c.475-748G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615459
chr2:54615484 A
A
 G
G
 2 a0001c0002t0001g0077
a0001c0002t0001g0287
a0001c0002t0001g0077
a0001c0002t0001g0287
 2 HG03491.hp2
HG03704.hp1
HG03491.hp2
HG03704.hp1
 intron_variant MODIFIER c.475-723A>G
c.475-723A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615484
chr2:54615513 G
G
 A
A
 1 a0001c0002t0001g0147
a0001c0002t0001g0147
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.475-694G>A
c.475-694G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615513
chr2:54615654 C
C
 T
T
 1 a0002c0006t0003g0141
a0002c0006t0003g0141
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.475-553C>T
c.475-553C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615654
chr2:54615697 A
A
 G
G
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.475-510A>G
c.475-510A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615697
chr2:54615818 G
G
 T
T
 9 a0001c0005t0003g0182
a0001c0007t0013g0043
a0001c0007t0013g0044
others(6): Show 
a0001c0005t0003g0182
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 9 HG02145.hp2
HG02809.hp2
HG02895.hp2
others(6): Show 
HG02145.hp2
HG02809.hp2
HG02895.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.475-389G>T
c.475-389G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54615818
chr2:54616063 C
C
 A
A
 41 a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
others(38): Show 
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 41 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(38): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.475-144C>A
c.475-144C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54616063
chr2:54616077 A
A
 G
G
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0002t0001g0009
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.475-130A>G
c.475-130A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 4/35 chr2 54616077
chr2:54616422 C
C
 T
T
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 5 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(2): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.566+124C>T
c.566+124C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54616422
chr2:54616437 T
T
 A
A
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.566+139T>A
c.566+139T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54616437
chr2:54616437 T
T
 C
C
 2 a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0019t0012g0246
a0001c0019t0012g0252
 2 HG02622.hp2
HG03540.hp1
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.566+139T>C
c.566+139T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54616437
chr2:54616548 A
A
 G
G
 1 a0001c0010t0017g0162
a0001c0010t0017g0162
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.566+250A>G
c.566+250A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54616548
chr2:54616805 G
G
 C
C
 2 a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0019t0012g0246
a0001c0019t0012g0252
 2 HG02622.hp2
HG03540.hp1
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.566+507G>C
c.566+507G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54616805
chr2:54617089 A
A
 C
C
 1 a0001c0010t0002g0199
a0001c0010t0002g0199
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.567-519A>C
c.567-519A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54617089
chr2:54617130 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.567-478G>A
c.567-478G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54617130
chr2:54617165 G
G
 A
A
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.567-443G>A
c.567-443G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54617165
chr2:54617285 A
A
 G
G
 283 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(280): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 283 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(280): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.567-323A>G
c.567-323A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54617285
chr2:54617406 C
C
 G
G
 10 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
others(7): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 10 HG02055.hp1
HG02055.hp2
HG02451.hp1
others(7): Show 
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.567-202C>G
c.567-202C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54617406
chr2:54617512 A
A
 G
G
 4 a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
others(1): Show 
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 4 NA18945.hp2
NA18957.hp1
NA18993.hp1
others(1): Show 
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA19000.hp2
 intron_variant MODIFIER c.567-96A>G
c.567-96A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 5/35 chr2 54617512
chr2:54617725 A
A
 G
G
 8 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(5): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
 8 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(5): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.647+37A>G
c.647+37A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617725
chr2:54617727 A
A
 G
G
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.647+39A>G
c.647+39A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617727
chr2:54617774 G
G
 A
A
 97 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0002t0001g0009
others(94): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0029t0007g0290
a0005c0028t0001g0006
a0010c0034t0001g0002
 97 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(94): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02698.hp1
HG02976.hp2
HG03017.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.647+86G>A
c.647+86G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617774
chr2:54617789 T
T
 G
G
 86 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(83): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 86 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.647+101T>G
c.647+101T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617789
chr2:54617833 G
G
 A
A
 41 a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
others(38): Show 
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 41 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(38): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.647+145G>A
c.647+145G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617833
chr2:54617837 A
A
 T
T
 1 a0001c0017t0002g0165
a0001c0017t0002g0165
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.647+149A>T
c.647+149A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617837
chr2:54617858 G
G
 A
A
 107 a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
others(104): Show 
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 107 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(104): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.647+170G>A
c.647+170G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617858
chr2:54617944 C
C
 T
T
 1 a0001c0003t0036g0361
a0001c0003t0036g0361
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.648-134C>T
c.648-134C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617944
chr2:54617980 T
T
 G
G
 102 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(99): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 102 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(99): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.648-98T>G
c.648-98T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 6/35 chr2 54617980
chr2:54618206 G
G
 T
T
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.763+13G>T
c.763+13G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618206
chr2:54618262 G
G
 T
T
 5 a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
others(2): Show 
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0209
a0001c0004t0004g0218
a0003c0031t0004g0063
 5 NA18940.hp2
NA18955.hp1
NA18987.hp2
others(2): Show 
NA18940.hp2
NA18955.hp1
NA18987.hp2
NA19055.hp1
NA19082.hp2
 intron_variant MODIFIER c.763+69G>T
c.763+69G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618262
chr2:54618349 A
A
 G
G
 4 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0019t0012g0246
others(1): Show 
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0019t0012g0246
a0001c0019t0012g0252
 4 HG01109.hp2
HG02258.hp1
HG02622.hp2
others(1): Show 
HG01109.hp2
HG02258.hp1
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.763+156A>G
c.763+156A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618349
chr2:54618353 C
C
 A
A
 20 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(17): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 20 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(17): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.763+160C>A
c.763+160C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618353
chr2:54618407 C
C
 T
T
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.763+214C>T
c.763+214C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618407
chr2:54618422 C
C
 A
A
 2 a0001c0003t0004g0024
a0001c0026t0006g0102
a0001c0003t0004g0024
a0001c0026t0006g0102
 2 HG00438.hp1
NA18950.hp1
HG00438.hp1
NA18950.hp1
 intron_variant MODIFIER c.763+229C>A
c.763+229C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618422
chr2:54618526 A
A
 C
C
 1 a0001c0003t0003g0356
a0001c0003t0003g0356
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.763+333A>C
c.763+333A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618526
chr2:54618561 G
G
 A
A
 82 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(79): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 82 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.763+368G>A
c.763+368G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618561
chr2:54618639 G
G
 C
C
 106 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(103): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 106 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.763+446G>C
c.763+446G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618639
chr2:54618686 G
G
 T
T
 1 a0001c0001t0014g0105
a0001c0001t0014g0105
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.763+493G>T
c.763+493G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618686
chr2:54618719 G
G
 C
C
 19 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(16): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 19 HG02145.hp2
HG02602.hp1
HG02809.hp2
others(16): Show 
HG02145.hp2
HG02602.hp1
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19030.hp1
NA19090.hp2
 intron_variant MODIFIER c.763+526G>C
c.763+526G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618719
chr2:54618721 C
C
 T
T
 1 a0001c0002t0001g0310
a0001c0002t0001g0310
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.763+528C>T
c.763+528C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618721
chr2:54618784 G
G
 C
C
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.763+591G>C
c.763+591G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618784
chr2:54618847 A
A
 C
C
 7 a0001c0001t0007g0347
a0001c0004t0004g0068
a0001c0004t0004g0071
others(4): Show 
a0001c0001t0007g0347
a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 7 HG02080.hp1
NA18945.hp2
NA18957.hp1
others(4): Show 
HG02080.hp1
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19083.hp2
 intron_variant MODIFIER c.763+654A>C
c.763+654A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618847
chr2:54618854 G
G
 A
A
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.763+661G>A
c.763+661G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54618854
chr2:54619235 G
G
 A
A
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.763+1042G>A
c.763+1042G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619235
chr2:54619263 A
A
 G
G
 65 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(62): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0044g0297
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 65 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(62): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG04204.hp2
NA18940.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19012.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.763+1070A>G
c.763+1070A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619263
chr2:54619349 C
C
 A
A
 1 a0001c0002t0001g0333
a0001c0002t0001g0333
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.763+1156C>A
c.763+1156C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619349
chr2:54619396 G
G
 A
A
 1 a0001c0001t0040g0300
a0001c0001t0040g0300
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.763+1203G>A
c.763+1203G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619396
chr2:54619425 C
C
 T
T
 1 a0001c0004t0004g0107
a0001c0004t0004g0107
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.763+1232C>T
c.763+1232C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619425
chr2:54619436 C
C
 A
A
 3 a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0170
 3 HG00323.hp1
HG00741.hp2
HG01496.hp2
HG00323.hp1
HG00741.hp2
HG01496.hp2
 intron_variant MODIFIER c.763+1243C>A
c.763+1243C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619436
chr2:54619477 C
C
 T
T
 1 a0001c0001t0040g0300
a0001c0001t0040g0300
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.763+1284C>T
c.763+1284C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619477
chr2:54619510 A
A
 G
G
 2 a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0024g0362
a0001c0003t0024g0363
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.763+1317A>G
c.763+1317A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619510
chr2:54619539 A
A
 G
G
 1 a0001c0017t0002g0165
a0001c0017t0002g0165
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.763+1346A>G
c.763+1346A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619539
chr2:54619658 T
T
 TAA
TAA
 65 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(62): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0044g0297
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 65 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(62): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG04204.hp2
NA18940.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19012.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.763+1465_763+1466i
others(4): Show 
c.763+1465_763+1466insAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619658
chr2:54619726 C
C
 T
T
 4 a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
others(1): Show 
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
 4 HG02071.hp1
HG02135.hp1
HG02155.hp1
others(1): Show 
HG02071.hp1
HG02135.hp1
HG02155.hp1
NA18951.hp1
 intron_variant MODIFIER c.763+1533C>T
c.763+1533C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619726
chr2:54619768 C
C
 T
T
 2 a0001c0008t0005g0244
a0001c0009t0007g0280
a0001c0008t0005g0244
a0001c0009t0007g0280
 2 HG01106.hp2
NA19030.hp2
HG01106.hp2
NA19030.hp2
 intron_variant MODIFIER c.763+1575C>T
c.763+1575C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619768
chr2:54619771 A
A
 G
G
 1 a0001c0002t0006g0323
a0001c0002t0006g0323
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.763+1578A>G
c.763+1578A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619771
chr2:54619800 G
G
 C
C
 84 a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
others(81): Show 
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 84 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(81): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.764-1600G>C
c.764-1600G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619800
chr2:54619826 G
G
 A
A
 4 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0062
others(1): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0062
a0001c0005t0008g0176
 4 HG02886.hp2
HG03453.hp1
HG03579.hp1
others(1): Show 
HG02886.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp1
 intron_variant MODIFIER c.764-1574G>A
c.764-1574G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54619826
chr2:54620099 C
C
 G
G
 11 a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
others(8): Show 
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 11 HG01346.hp2
HG02055.hp1
HG02451.hp1
others(8): Show 
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.764-1301C>G
c.764-1301C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620099
chr2:54620105 A
A
 G
G
 4 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(1): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0330
 4 NA18983.hp1
NA18993.hp2
NA19074.hp2
others(1): Show 
NA18983.hp1
NA18993.hp2
NA19074.hp2
NA19082.hp1
 intron_variant MODIFIER c.764-1295A>G
c.764-1295A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620105
chr2:54620130 C
C
 T
T
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.764-1270C>T
c.764-1270C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620130
chr2:54620145 C
C
 T
T
 3 a0001c0002t0001g0124
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0002t0001g0124
a0001c0014t0001g0013
a0001c0014t0001g0029
 3 NA18970.hp2
NA18985.hp2
NA19058.hp2
NA18970.hp2
NA18985.hp2
NA19058.hp2
 intron_variant MODIFIER c.764-1255C>T
c.764-1255C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620145
chr2:54620199 T
T
 C
C
 3 a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
 3 HG02738.hp2
HG03669.hp2
NA20905.hp2
HG02738.hp2
HG03669.hp2
NA20905.hp2
 intron_variant MODIFIER c.764-1201T>C
c.764-1201T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620199
chr2:54620204 G
G
 T
T
 3 a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
 3 HG03579.hp2
NA19043.hp2
NA20300.hp2
HG03579.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.764-1196G>T
c.764-1196G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620204
chr2:54620273 C
C
 T
T
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.764-1127C>T
c.764-1127C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620273
chr2:54620443 G
G
 A
A
 1 a0001c0011t0023g0230
a0001c0011t0023g0230
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.764-957G>A
c.764-957G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620443
chr2:54620476 A
A
 AAT
AAT
 287 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(284): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 287 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(284): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.764-924_764-923ins
others(2): Show 
c.764-924_764-923insAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620476
chr2:54620527 C
C
 A
A
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.764-873C>A
c.764-873C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620527
chr2:54620538 C
C
 A
A
 219 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0010g0238
others(216): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 219 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(216): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.764-862C>A
c.764-862C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620538
chr2:54620612 G
G
 A
A
 4 a0001c0001t0002g0123
a0001c0001t0002g0225
a0001c0001t0002g0293
others(1): Show 
a0001c0001t0002g0123
a0001c0001t0002g0225
a0001c0001t0002g0293
a0001c0001t0002g0338
 4 HG02083.hp2
HG02155.hp2
NA18954.hp1
others(1): Show 
HG02083.hp2
HG02155.hp2
NA18954.hp1
NA18964.hp1
 intron_variant MODIFIER c.764-788G>A
c.764-788G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620612
chr2:54620727 C
C
 G
G
 4 a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
others(1): Show 
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 4 HG01346.hp2
HG03130.hp1
HG03209.hp1
others(1): Show 
HG01346.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.764-673C>G
c.764-673C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620727
chr2:54620735 A
A
 C
C
 12 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(9): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
 12 HG02055.hp1
HG02055.hp2
HG02280.hp2
others(9): Show 
HG02055.hp1
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03471.hp2
HG03540.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.764-665A>C
c.764-665A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620735
chr2:54620797 G
G
 A
A
 187 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0019g0031
others(184): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 187 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(184): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.764-603G>A
c.764-603G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620797
chr2:54620819 T
T
 C
C
 3 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0021g0052
 3 HG02486.hp2
HG02647.hp1
HG02818.hp2
HG02486.hp2
HG02647.hp1
HG02818.hp2
 intron_variant MODIFIER c.764-581T>C
c.764-581T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620819
chr2:54620884 T
T
 C
C
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.764-516T>C
c.764-516T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620884
chr2:54620985 C
C
 T
T
 1 a0001c0017t0002g0165
a0001c0017t0002g0165
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.764-415C>T
c.764-415C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54620985
chr2:54621071 C
C
 T
T
 1 a0001c0021t0001g0197
a0001c0021t0001g0197
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.764-329C>T
c.764-329C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54621071
chr2:54621193 C
C
 A
A
 2 a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0253
a0001c0005t0011g0254
 2 HG02572.hp1
HG03209.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.764-207C>A
c.764-207C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54621193
chr2:54621319 C
C
 G
G
 1 a0001c0017t0002g0165
a0001c0017t0002g0165
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.764-81C>G
c.764-81C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54621319
chr2:54621321 G
G
 A
A
 1 a0001c0001t0002g0208
a0001c0001t0002g0208
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.764-79G>A
c.764-79G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54621321
chr2:54621339 G
G
 T
T
 2 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0002g0249
a0001c0001t0002g0367
 2 HG02717.hp1
HG02922.hp1
HG02717.hp1
HG02922.hp1
 intron_variant MODIFIER c.764-61G>T
c.764-61G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54621339
chr2:54621357 A
A
 ACC
ACC
 5 a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
others(2): Show 
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
 5 HG00140.hp2
HG00280.hp1
HG01168.hp2
others(2): Show 
HG00140.hp2
HG00280.hp1
HG01168.hp2
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.764-43_764-42insCC
c.764-43_764-42insCC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54621357
chr2:54621358 G
G
 C
C
 5 a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
others(2): Show 
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
 5 HG00140.hp2
HG00280.hp1
HG01168.hp2
others(2): Show 
HG00140.hp2
HG00280.hp1
HG01168.hp2
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.764-42G>C
c.764-42G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 7/35 chr2 54621358
chr2:54621569 C
C
 T
T
 4 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(1): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.876+57C>T
c.876+57C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 8/35 chr2 54621569
chr2:54621591 A
A
 G
G
 123 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(120): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 123 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(120): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.876+79A>G
c.876+79A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 8/35 chr2 54621591
chr2:54621599 A
A
 G
G
 18 a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
others(15): Show 
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0127
a0001c0001t0044g0297
a0001c0002t0001g0146
 18 HG00438.hp2
HG00609.hp1
NA18944.hp2
others(15): Show 
HG00438.hp2
HG00609.hp1
NA18944.hp2
NA18951.hp2
NA18952.hp1
NA18979.hp1
NA18992.hp1
NA19001.hp2
NA19012.hp2
NA19062.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.876+87A>G
c.876+87A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 8/35 chr2 54621599
chr2:54621765 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.876+253G>A
c.876+253G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 8/35 chr2 54621765
chr2:54622022 A
A
 G
G
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.877-278A>G
c.877-278A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 8/35 chr2 54622022
chr2:54622544 A
A
 G
G
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 9 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(6): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.1064+57A>G
c.1064+57A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622544
chr2:54622602 G
G
 A
A
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1064+115G>A
c.1064+115G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622602
chr2:54622652 G
G
 C
C
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1064+165G>C
c.1064+165G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622652
chr2:54622670 C
C
 T
T
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1064+183C>T
c.1064+183C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622670
chr2:54622686 T
T
 C
C
 7 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(4): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0031g0187
 7 HG02886.hp2
HG03453.hp1
HG03471.hp1
others(4): Show 
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.1064+199T>C
c.1064+199T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622686
chr2:54622697 C
C
 T
T
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1064+210C>T
c.1064+210C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622697
chr2:54622757 C
C
 T
T
 1 a0001c0004t0010g0348
a0001c0004t0010g0348
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1064+270C>T
c.1064+270C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622757
chr2:54622850 A
A
 T
T
 1 a0001c0002t0001g0326
a0001c0002t0001g0326
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.1064+363A>T
c.1064+363A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622850
chr2:54622859 A
A
 G
G
 13 a0001c0001t0002g0349
a0001c0009t0002g0285
a0001c0009t0007g0272
others(10): Show 
a0001c0001t0002g0349
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 13 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(10): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA19058.hp1
 intron_variant MODIFIER c.1064+372A>G
c.1064+372A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54622859
chr2:54623077 T
T
 C
C
 1 a0001c0002t0001g0326
a0001c0002t0001g0326
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.1065-402T>C
c.1065-402T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54623077
chr2:54623208 G
G
 T
T
 1 a0001c0007t0013g0043
a0001c0007t0013g0043
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1065-271G>T
c.1065-271G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54623208
chr2:54623222 G
G
 A
A
 1 a0001c0010t0002g0140
a0001c0010t0002g0140
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.1065-257G>A
c.1065-257G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54623222
chr2:54623297 A
A
 G
G
 1 a0001c0004t0035g0042
a0001c0004t0035g0042
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1065-182A>G
c.1065-182A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 9/35 chr2 54623297
chr2:54623606 A
A
 G
G
 20 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(17): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 20 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(17): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
HG06807.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1182+10A>G
c.1182+10A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54623606
chr2:54623631 C
C
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1182+35C>A
c.1182+35C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54623631
chr2:54623751 A
A
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.1182+155A>G
c.1182+155A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54623751
chr2:54623794 G
G
 A
A
 1 a0001c0007t0001g0302
a0001c0007t0001g0302
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1182+198G>A
c.1182+198G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54623794
chr2:54623854 G
G
 A
A
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 5 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(2): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1182+258G>A
c.1182+258G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54623854
chr2:54623859 A
A
 G
G
 1 a0001c0023t0005g0283
a0001c0023t0005g0283
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.1182+263A>G
c.1182+263A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54623859
chr2:54624037 G
G
 T
T
 1 a0001c0002t0001g0103
a0001c0002t0001g0103
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1182+441G>T
c.1182+441G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624037
chr2:54624163 G
G
 A
A
 166 a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0347
others(163): Show 
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0010c0034t0001g0002
 166 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(163): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1182+567G>A
c.1182+567G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624163
chr2:54624248 T
T
 C
C
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.1183-556T>C
c.1183-556T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624248
chr2:54624267 G
G
 A
A
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.1183-537G>A
c.1183-537G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624267
chr2:54624505 C
C
 A
A
 1 a0001c0004t0004g0358
a0001c0004t0004g0358
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.1183-299C>A
c.1183-299C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624505
chr2:54624587 G
G
 A
A
 1 a0001c0002t0006g0159
a0001c0002t0006g0159
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.1183-217G>A
c.1183-217G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624587
chr2:54624640 T
T
 G
G
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 5 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(2): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1183-164T>G
c.1183-164T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624640
chr2:54624646 T
T
 C
C
 1 a0001c0003t0003g0008
a0001c0003t0003g0008
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1183-158T>C
c.1183-158T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624646
chr2:54624664 C
C
 T
T
 1 a0001c0002t0001g0287
a0001c0002t0001g0287
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1183-140C>T
c.1183-140C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 10/35 chr2 54624664
chr2:54624992 G
G
 A
A
 4 a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
others(1): Show 
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 4 HG01346.hp2
HG03130.hp1
HG03209.hp1
others(1): Show 
HG01346.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.1341+30G>A
c.1341+30G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54624992
chr2:54625023 C
C
 T
T
 1 a0001c0004t0004g0107
a0001c0004t0004g0107
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.1341+61C>T
c.1341+61C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625023
chr2:54625096 G
G
 C
C
 4 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(1): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.1341+134G>C
c.1341+134G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625096
chr2:54625121 A
A
 T
T
 56 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(53): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0347
a0001c0001t0018g0127
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 56 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(53): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.1341+159A>T
c.1341+159A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625121
chr2:54625157 T
T
 C
C
 4 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(1): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0005t0031g0187
 4 HG02055.hp2
HG02280.hp2
HG02818.hp1
others(1): Show 
HG02055.hp2
HG02280.hp2
HG02818.hp1
HG03540.hp2
 intron_variant MODIFIER c.1341+195T>C
c.1341+195T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625157
chr2:54625516 G
G
 A
A
 1 a0001c0001t0002g0225
a0001c0001t0002g0225
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1342-416G>A
c.1342-416G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625516
chr2:54625552 T
T
 G
G
 99 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(96): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 99 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(96): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.1342-380T>G
c.1342-380T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625552
chr2:54625843 G
G
 A
A
 1 a0001c0002t0001g0086
a0001c0002t0001g0086
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1342-89G>A
c.1342-89G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625843
chr2:54625883 G
G
 A
A
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1342-49G>A
c.1342-49G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625883
chr2:54625918 C
C
 T
T
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.1342-14C>T
c.1342-14C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 11/35 chr2 54625918
chr2:54626317 G
G
 A
A
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.1644+83G>A
c.1644+83G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626317
chr2:54626392 A
A
 G
G
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0002t0001g0009
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.1644+158A>G
c.1644+158A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626392
chr2:54626412 C
C
 T
T
 4 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(1): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.1644+178C>T
c.1644+178C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626412
chr2:54626485 G
G
 T
T
 1 a0001c0004t0010g0175
a0001c0004t0010g0175
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1644+251G>T
c.1644+251G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626485
chr2:54626529 T
T
 G
G
 2 a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0011g0253
a0001c0005t0011g0254
 2 HG02572.hp1
HG03209.hp2
HG02572.hp1
HG03209.hp2
 intron_variant MODIFIER c.1644+295T>G
c.1644+295T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626529
chr2:54626567 A
A
 G
G
 2 a0001c0001t0005g0291
a0001c0001t0005g0344
a0001c0001t0005g0291
a0001c0001t0005g0344
 2 HG01515.hp1
homoSapiens_chm13v2.hp1
HG01515.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1644+333A>G
c.1644+333A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626567
chr2:54626569 T
T
 C
C
 1 a0001c0001t0005g0345
a0001c0001t0005g0345
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1644+335T>C
c.1644+335T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626569
chr2:54626587 G
G
 T
T
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.1644+353G>T
c.1644+353G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626587
chr2:54626598 G
G
 A
A
 1 a0001c0001t0002g0225
a0001c0001t0002g0225
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1644+364G>A
c.1644+364G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626598
chr2:54626863 T
T
 C
C
 1 a0001c0013t0015g0255
a0001c0013t0015g0255
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1644+629T>C
c.1644+629T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626863
chr2:54626909 G
G
 A
A
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.1644+675G>A
c.1644+675G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626909
chr2:54626909 G
G
 T
T
 1 a0001c0002t0001g0275
a0001c0002t0001g0275
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1644+675G>T
c.1644+675G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626909
chr2:54626940 A
A
 G
G
 3 a0001c0003t0003g0113
a0001c0003t0003g0138
a0002c0006t0003g0185
a0001c0003t0003g0113
a0001c0003t0003g0138
a0002c0006t0003g0185
 3 HG03579.hp2
NA18955.hp2
NA19043.hp2
HG03579.hp2
NA18955.hp2
NA19043.hp2
 intron_variant MODIFIER c.1644+706A>G
c.1644+706A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54626940
chr2:54627009 G
G
 GAAGAAAA
others(344): Show 
GAAGAAAATAGGACAGTTTTCGGGCCAGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGT
TCGAGACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAATACAA
AATATTAGCCGGACGTGGGGGCGCGTGCCTGTAATCCCAGCTACTTGGGA
GGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAG
CCGAGATTCCGCCAGTGCACTCCAGCCTGGACAACAAGAGCTAAAAAAAA
AAAAAAAAAAAACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
AA
 1 a0002c0006t0003g0152
a0002c0006t0003g0152
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.1644+795_1644+796i
others(353): Show 
c.1644+795_1644+796insGGGCCAGGCGCGGTGGCTCACGCCTGTA
ATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAG
TTCGAGACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAATACA
AAATATTAGCCGGACGTGGGGGCGCGTGCCTGTAATCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGA
GCCGAGATTCCGCCAGTGCACTCCAGCCTGGACAACAAGAGCTAAAAAAA
AAAAAAAAAAAAACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAGAAAATAGGACAGTTTTC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 INFO_REALIGN_3_PRIME chr2 54627009
chr2:54627009 G
G
 GAAGAAAA
others(343): Show 
GAAGAAAATAGGACAGTTTTCGGGCCAGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGT
TCGAGACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAATACAA
AATATTAGCCGGACGTGGGGGCGCGTGCCTGTAATCCCAGCTACTTGGGA
GGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAG
CCGAGATTCCGCCAGTGCACTCCAGCCTGGACAACAAGAGCTAAAAAAAA
AAAAAAAAAAACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA
A
 9 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(6): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 9 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(6): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18994.hp2
NA19005.hp1
 intron_variant MODIFIER c.1644+795_1644+796i
others(352): Show 
c.1644+795_1644+796insGGGCCAGGCGCGGTGGCTCACGCCTGTA
ATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAG
TTCGAGACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAATACA
AAATATTAGCCGGACGTGGGGGCGCGTGCCTGTAATCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGA
GCCGAGATTCCGCCAGTGCACTCCAGCCTGGACAACAAGAGCTAAAAAAA
AAAAAAAAAAAACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAGAAAATAGGACAGTTTTC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 INFO_REALIGN_3_PRIME chr2 54627009
chr2:54627009 G
G
 GAAGAAAA
others(344): Show 
GAAGAAAATAGGACAGTTTTCGGGCCAGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGT
TCGAGACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAATACAA
AATATTAGCCGGACGTGGGGGCGCGTGCCTGTAATCCCAGCTACTTGGGA
GGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAG
CCGAGATTCCGCCAGTGCACTCCAGCCTGGACAACAAGAGCTAAAAAAAA
AAAAAAAAAAACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AA
 1 a0002c0006t0003g0179
a0002c0006t0003g0179
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1644+795_1644+796i
others(353): Show 
c.1644+795_1644+796insGGGCCAGGCGCGGTGGCTCACGCCTGTA
ATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAG
TTCGAGACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAATACA
AAATATTAGCCGGACGTGGGGGCGCGTGCCTGTAATCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGA
GCCGAGATTCCGCCAGTGCACTCCAGCCTGGACAACAAGAGCTAAAAAAA
AAAAAAAAAAAACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAGAAAATAGGACAGTTTTC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 INFO_REALIGN_3_PRIME chr2 54627009
chr2:54627125 T
T
 G
G
 5 a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0035
others(2): Show 
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0035
a0001c0001t0007g0019
a0001c0020t0002g0034
 5 HG02027.hp1
HG02040.hp2
HG02165.hp2
others(2): Show 
HG02027.hp1
HG02040.hp2
HG02165.hp2
NA18959.hp1
NA18998.hp2
 intron_variant MODIFIER c.1644+891T>G
c.1644+891T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627125
chr2:54627136 T
T
 C
C
 1 a0001c0013t0015g0263
a0001c0013t0015g0263
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1644+902T>C
c.1644+902T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627136
chr2:54627152 A
A
 G
G
 15 a0001c0001t0005g0221
a0001c0009t0002g0285
a0001c0009t0007g0272
others(12): Show 
a0001c0001t0005g0221
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 15 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(12): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
HG06807.hp2
 intron_variant MODIFIER c.1644+918A>G
c.1644+918A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627152
chr2:54627194 A
A
 G
G
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.1645-903A>G
c.1645-903A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627194
chr2:54627288 T
T
 G
G
 15 a0001c0001t0005g0221
a0001c0009t0002g0285
a0001c0009t0007g0272
others(12): Show 
a0001c0001t0005g0221
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 15 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(12): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
HG06807.hp2
 intron_variant MODIFIER c.1645-809T>G
c.1645-809T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627288
chr2:54627450 T
T
 C
C
 16 a0001c0001t0005g0221
a0001c0009t0002g0285
a0001c0009t0007g0272
others(13): Show 
a0001c0001t0005g0221
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
a0008c0030t0030g0174
 16 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(13): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02717.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
HG06807.hp2
 intron_variant MODIFIER c.1645-647T>C
c.1645-647T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627450
chr2:54627768 C
C
 T
T
 76 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(73): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 76 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(73): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.1645-329C>T
c.1645-329C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627768
chr2:54627785 TC
TC
 T
T
 47 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(44): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 47 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.1645-305delC
c.1645-305delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 INFO_REALIGN_3_PRIME chr2 54627785
chr2:54627792 C
C
 A
A
 1 a0001c0005t0025g0240
a0001c0005t0025g0240
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1645-305C>A
c.1645-305C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627792
chr2:54627977 C
C
 A
A
 1 a0001c0005t0008g0062
a0001c0005t0008g0062
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1645-120C>A
c.1645-120C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54627977
chr2:54628000 T
T
 C
C
 286 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(283): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 286 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(283): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1645-97T>C
c.1645-97T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54628000
chr2:54628093 A
A
 G
G
 3 a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0006g0089
a0001c0002t0001g0086
a0001c0002t0001g0115
a0001c0002t0006g0089
 3 NA18964.hp2
NA18978.hp2
NA18987.hp1
NA18964.hp2
NA18978.hp2
NA18987.hp1
 splice_region_variant&intron_variant LOW c.1645-4A>G
c.1645-4A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 12/35 chr2 54628093
chr2:54628317 G
G
 A
A
 51 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(48): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 51 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(48): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.1798+67G>A
c.1798+67G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628317
chr2:54628409 C
C
 A
A
 1 a0001c0003t0003g0304
a0001c0003t0003g0304
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1798+159C>A
c.1798+159C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628409
chr2:54628437 C
C
 T
T
 6 a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0193
others(3): Show 
a0001c0004t0004g0068
a0001c0004t0004g0071
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0277
 6 HG02080.hp1
NA18945.hp2
NA18957.hp1
others(3): Show 
HG02080.hp1
NA18945.hp2
NA18957.hp1
NA18993.hp1
NA19000.hp2
NA19083.hp2
 intron_variant MODIFIER c.1798+187C>T
c.1798+187C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628437
chr2:54628442 C
C
 T
T
 1 a0001c0002t0001g0028
a0001c0002t0001g0028
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.1798+192C>T
c.1798+192C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628442
chr2:54628444 T
T
 C
C
 1 a0001c0002t0001g0028
a0001c0002t0001g0028
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.1798+194T>C
c.1798+194T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628444
chr2:54628566 C
C
 G
G
 1 a0001c0009t0007g0280
a0001c0009t0007g0280
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.1798+316C>G
c.1798+316C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628566
chr2:54628619 G
G
 C
C
 1 a0001c0002t0001g0115
a0001c0002t0001g0115
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.1799-314G>C
c.1799-314G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628619
chr2:54628843 A
A
 T
T
 1 a0001c0013t0015g0263
a0001c0013t0015g0263
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1799-90A>T
c.1799-90A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628843
chr2:54628917 C
C
 T
T
 1 a0002c0006t0003g0200
a0002c0006t0003g0200
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1799-16C>T
c.1799-16C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 13/35 chr2 54628917
chr2:54629814 C
C
 T
T
 15 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
others(12): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 15 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(12): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.2669+11C>T
c.2669+11C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 14/35 chr2 54629814
chr2:54629869 A
A
 G
G
 1 a0001c0007t0001g0192
a0001c0007t0001g0192
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.2670-23A>G
c.2670-23A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 14/35 chr2 54629869
chr2:54629874 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.2670-18G>A
c.2670-18G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 14/35 chr2 54629874
chr2:54630134 G
G
 A
A
 1 a0001c0002t0001g0274
a0001c0002t0001g0274
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.2807+105G>A
c.2807+105G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 15/35 chr2 54630134
chr2:54630178 C
C
 A
A
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.2807+149C>A
c.2807+149C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 15/35 chr2 54630178
chr2:54630411 C
C
 T
T
 1 a0001c0007t0001g0081
a0001c0007t0001g0081
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.2807+382C>T
c.2807+382C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 15/35 chr2 54630411
chr2:54630527 A
A
 G
G
 1 a0001c0004t0004g0218
a0001c0004t0004g0218
 1 NA19055.hp1
NA19055.hp1
 intron_variant MODIFIER c.2808-328A>G
c.2808-328A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 15/35 chr2 54630527
chr2:54630664 T
T
 C
C
 84 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(81): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0004g0001
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0126
a0001c0001t0005g0203
a0001c0001t0005g0211
a0001c0001t0005g0309
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0127
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0040g0300
a0001c0001t0044g0297
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0020t0002g0034
 84 HG00408.hp2
HG00423.hp2
HG00438.hp2
others(81): Show 
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00735.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02040.hp2
HG02071.hp2
HG02083.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02300.hp2
HG03942.hp1
HG04184.hp2
HG04228.hp2
NA18612.hp2
NA18941.hp1
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18992.hp1
NA18998.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19010.hp1
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19058.hp1
NA19062.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20752.hp1
 intron_variant MODIFIER c.2808-191T>C
c.2808-191T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 15/35 chr2 54630664
chr2:54631749 C
C
 T
T
 47 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(44): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 47 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3564+138C>T
c.3564+138C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54631749
chr2:54631902 A
A
 G
G
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.3564+291A>G
c.3564+291A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54631902
chr2:54631947 C
C
 A
A
 1 a0001c0004t0007g0173
a0001c0004t0007g0173
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.3564+336C>A
c.3564+336C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54631947
chr2:54632025 C
C
 T
T
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
 4 HG00738.hp1
HG02280.hp1
NA20300.hp1
others(1): Show 
HG00738.hp1
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3564+414C>T
c.3564+414C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632025
chr2:54632077 T
T
 TA
TA
 24 a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0002g0128
others(21): Show 
a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0002g0128
a0001c0001t0002g0167
a0001c0001t0002g0316
a0001c0001t0005g0309
a0001c0004t0004g0277
a0001c0004t0010g0315
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 24 HG01109.hp2
HG02145.hp1
HG02258.hp1
others(21): Show 
HG01109.hp2
HG02145.hp1
HG02258.hp1
HG02300.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA18956.hp1
NA18979.hp2
NA18985.hp1
NA19000.hp1
NA19000.hp2
NA19043.hp1
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.3565-468dupA
c.3565-468dupA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 INFO_REALIGN_3_PRIME chr2 54632077
chr2:54632077 TA
TA
 T
T
 21 a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0002t0001g0334
others(18): Show 
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0002t0001g0334
a0001c0003t0009g0227
a0001c0004t0004g0202
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0002c0006t0003g0016
 21 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(18): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02602.hp1
HG02615.hp1
HG02809.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03654.hp1
HG03942.hp2
NA18906.hp1
NA18941.hp2
NA18987.hp2
NA19030.hp2
NA19076.hp2
NA20129.hp2
 intron_variant MODIFIER c.3565-468delA
c.3565-468delA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 INFO_REALIGN_3_PRIME chr2 54632077
chr2:54632110 A
A
 T
T
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
 4 HG00738.hp1
HG02280.hp1
NA20300.hp1
others(1): Show 
HG00738.hp1
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3565-456A>T
c.3565-456A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632110
chr2:54632125 G
G
 T
T
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
 4 HG00738.hp1
HG02280.hp1
NA20300.hp1
others(1): Show 
HG00738.hp1
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3565-441G>T
c.3565-441G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632125
chr2:54632130 C
C
 G
G
 1 a0001c0018t0042g0027
a0001c0018t0042g0027
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.3565-436C>G
c.3565-436C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632130
chr2:54632266 C
C
 T
T
 79 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(76): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 79 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(76): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.3565-300C>T
c.3565-300C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632266
chr2:54632289 C
C
 T
T
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.3565-277C>T
c.3565-277C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632289
chr2:54632386 C
C
 T
T
 1 a0001c0001t0005g0106
a0001c0001t0005g0106
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.3565-180C>T
c.3565-180C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632386
chr2:54632387 G
G
 A
A
 16 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
others(13): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 16 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(13): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.3565-179G>A
c.3565-179G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632387
chr2:54632486 T
T
 C
C
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3565-80T>C
c.3565-80T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632486
chr2:54632503 T
T
 G
G
 1 a0001c0004t0004g0166
a0001c0004t0004g0166
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.3565-63T>G
c.3565-63T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 16/35 chr2 54632503
chr2:54633032 G
G
 T
T
 8 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(5): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0036g0361
 8 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(5): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02698.hp2
 intron_variant MODIFIER c.3767+264G>T
c.3767+264G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633032
chr2:54633033 T
T
 A
A
 8 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(5): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0036g0361
 8 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(5): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02698.hp2
 intron_variant MODIFIER c.3767+265T>A
c.3767+265T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633033
chr2:54633034 A
A
 ACCG
ACCG
 8 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(5): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0036g0361
 8 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(5): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02698.hp2
 intron_variant MODIFIER c.3767+266_3767+267i
others(5): Show 
c.3767+266_3767+267insCCG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633034
chr2:54633041 G
G
 A
A
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.3767+273G>A
c.3767+273G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633041
chr2:54633054 G
G
 A
A
 1 a0001c0005t0021g0052
a0001c0005t0021g0052
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.3767+286G>A
c.3767+286G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633054
chr2:54633190 A
A
 T
T
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3767+422A>T
c.3767+422A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633190
chr2:54633287 T
T
 C
C
 3 a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
 3 HG02630.hp1
HG02886.hp1
HG03516.hp2
HG02630.hp1
HG02886.hp1
HG03516.hp2
 intron_variant MODIFIER c.3767+519T>C
c.3767+519T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633287
chr2:54633408 C
C
 CGT
CGT
 3 a0001c0003t0027g0054
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0003t0027g0054
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
NA19240.hp1
HG03654.hp1
HG03942.hp2
NA19240.hp1
 intron_variant MODIFIER c.3767+656_3767+657d
others(4): Show 
c.3767+656_3767+657dupTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 INFO_REALIGN_3_PRIME chr2 54633408
chr2:54633433 G
G
 GTGTC
GTGTC
 83 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(80): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0005c0028t0001g0006
a0010c0034t0001g0002
 83 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(80): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00558.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.3767+680_3767+683d
others(6): Show 
c.3767+680_3767+683dupTCTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 INFO_REALIGN_3_PRIME chr2 54633433
chr2:54633433 G
G
 GTGTCTGT
others(1): Show 
GTGTCTGTC
 16 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
others(13): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 16 HG01346.hp2
HG02055.hp1
HG02055.hp2
others(13): Show 
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
NA18906.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.3767+676_3767+683d
others(10): Show 
c.3767+676_3767+683dupTCTGTCTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 INFO_REALIGN_3_PRIME chr2 54633433
chr2:54633534 G
G
 A
A
 1 a0001c0003t0004g0024
a0001c0003t0004g0024
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.3767+766G>A
c.3767+766G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633534
chr2:54633831 A
A
 C
C
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3767+1063A>C
c.3767+1063A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54633831
chr2:54634035 A
A
 G
G
 198 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0004g0001
others(195): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0182
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0010c0034t0001g0002
 198 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(195): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18952.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.3767+1267A>G
c.3767+1267A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634035
chr2:54634047 A
A
 G
G
 7 a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
others(4): Show 
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
 7 HG02055.hp1
HG02451.hp1
HG02615.hp1
others(4): Show 
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02965.hp2
HG03471.hp2
NA19030.hp2
 intron_variant MODIFIER c.3767+1279A>G
c.3767+1279A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634047
chr2:54634183 G
G
 A
A
 1 a0001c0002t0006g0281
a0001c0002t0006g0281
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.3767+1415G>A
c.3767+1415G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634183
chr2:54634250 G
G
 C
C
 16 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(13): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 16 HG00738.hp1
HG01106.hp2
HG01167.hp1
others(13): Show 
HG00738.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA20300.hp1
 intron_variant MODIFIER c.3767+1482G>C
c.3767+1482G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634250
chr2:54634621 C
C
 T
T
 7 a0001c0001t0002g0123
a0001c0001t0002g0214
a0001c0001t0002g0225
others(4): Show 
a0001c0001t0002g0123
a0001c0001t0002g0214
a0001c0001t0002g0225
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0338
a0001c0001t0002g0351
 7 HG02015.hp1
HG02071.hp2
HG02083.hp2
others(4): Show 
HG02015.hp1
HG02071.hp2
HG02083.hp2
HG02155.hp2
NA18954.hp1
NA18964.hp1
NA19079.hp2
 intron_variant MODIFIER c.3767+1853C>T
c.3767+1853C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634621
chr2:54634688 T
T
 C
C
 29 a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
others(26): Show 
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0004t0002g0161
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
a0001c0033t0007g0248
 29 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(26): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02647.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp1
HG06807.hp2
NA20129.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.3767+1920T>C
c.3767+1920T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634688
chr2:54634795 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.3767+2027G>A
c.3767+2027G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634795
chr2:54634821 T
T
 G
G
 1 a0001c0008t0005g0046
a0001c0008t0005g0046
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.3767+2053T>G
c.3767+2053T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634821
chr2:54634866 G
G
 A
A
 163 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0004g0070
others(160): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0010c0034t0001g0002
 163 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(160): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03491.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18906.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.3767+2098G>A
c.3767+2098G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54634866
chr2:54635014 C
C
 T
T
 12 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(9): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
 12 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(9): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19090.hp2
 intron_variant MODIFIER c.3767+2246C>T
c.3767+2246C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635014
chr2:54635161 A
A
 T
T
 1 a0001c0003t0003g0355
a0001c0003t0003g0355
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.3767+2393A>T
c.3767+2393A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635161
chr2:54635193 C
C
 T
T
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.3767+2425C>T
c.3767+2425C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635193
chr2:54635215 C
C
 G
G
 55 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(52): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3767+2447C>G
c.3767+2447C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635215
chr2:54635284 A
A
 T
T
 1 a0001c0002t0006g0299
a0001c0002t0006g0299
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.3768-2429A>T
c.3768-2429A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635284
chr2:54635392 G
G
 A
A
 1 a0001c0002t0005g0122
a0001c0002t0005g0122
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.3768-2321G>A
c.3768-2321G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635392
chr2:54635398 C
C
 T
T
 1 a0001c0001t0022g0118
a0001c0001t0022g0118
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.3768-2315C>T
c.3768-2315C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635398
chr2:54635507 C
C
 T
T
 7 a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
others(4): Show 
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 7 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(4): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.3768-2206C>T
c.3768-2206C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635507
chr2:54635532 G
G
 A
A
 1 a0001c0001t0004g0092
a0001c0001t0004g0092
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.3768-2181G>A
c.3768-2181G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635532
chr2:54635816 C
C
 T
T
 2 a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0288
a0001c0009t0007g0289
 2 HG01167.hp1
HG01169.hp2
HG01167.hp1
HG01169.hp2
 intron_variant MODIFIER c.3768-1897C>T
c.3768-1897C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635816
chr2:54635935 A
A
 G
G
 1 a0001c0005t0043g0039
a0001c0005t0043g0039
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.3768-1778A>G
c.3768-1778A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635935
chr2:54635945 T
T
 G
G
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3768-1768T>G
c.3768-1768T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54635945
chr2:54636038 T
T
 C
C
 51 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(48): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 51 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(48): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3768-1675T>C
c.3768-1675T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636038
chr2:54636209 A
A
 G
G
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.3768-1504A>G
c.3768-1504A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636209
chr2:54636215 T
T
 G
G
 254 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(251): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 254 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(251): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.3768-1498T>G
c.3768-1498T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636215
chr2:54636222 A
A
 G
G
 11 a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
others(8): Show 
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 11 HG01346.hp2
HG02055.hp1
HG02451.hp1
others(8): Show 
HG01346.hp2
HG02055.hp1
HG02451.hp1
HG02615.hp1
HG02809.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.3768-1491A>G
c.3768-1491A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636222
chr2:54636291 G
G
 C
C
 8 a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
others(5): Show 
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0120
a0001c0001t0002g0169
a0001c0001t0002g0215
a0001c0001t0002g0217
a0001c0001t0002g0349
a0001c0001t0002g0350
 8 NA18944.hp1
NA18946.hp1
NA18950.hp2
others(5): Show 
NA18944.hp1
NA18946.hp1
NA18950.hp2
NA18963.hp2
NA18971.hp2
NA18978.hp1
NA19058.hp1
NA19090.hp1
 intron_variant MODIFIER c.3768-1422G>C
c.3768-1422G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636291
chr2:54636335 A
A
 G
G
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3768-1378A>G
c.3768-1378A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636335
chr2:54636383 A
A
 C
C
 1 a0001c0001t0019g0183
a0001c0001t0019g0183
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3768-1330A>C
c.3768-1330A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636383
chr2:54636573 T
T
 C
C
 1 a0001c0008t0026g0365
a0001c0008t0026g0365
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.3768-1140T>C
c.3768-1140T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636573
chr2:54636677 G
G
 A
A
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.3768-1036G>A
c.3768-1036G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636677
chr2:54636710 A
A
 T
T
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3768-1003A>T
c.3768-1003A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636710
chr2:54636724 A
A
 G
G
 82 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(79): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
 82 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(79): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18940.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.3768-989A>G
c.3768-989A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636724
chr2:54636856 T
T
 G
G
 8 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(5): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
a0001c0016t0005g0064
a0001c0016t0005g0099
 8 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(5): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG03654.hp1
HG03942.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3768-857T>G
c.3768-857T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636856
chr2:54636893 C
C
 G
G
 2 a0001c0001t0002g0249
a0001c0001t0002g0367
a0001c0001t0002g0249
a0001c0001t0002g0367
 2 HG02717.hp1
HG02922.hp1
HG02717.hp1
HG02922.hp1
 intron_variant MODIFIER c.3768-820C>G
c.3768-820C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636893
chr2:54636893 C
C
 T
T
 47 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(44): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 47 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3768-820C>T
c.3768-820C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636893
chr2:54636895 C
C
 G
G
 1 a0001c0002t0006g0313
a0001c0002t0006g0313
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.3768-818C>G
c.3768-818C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636895
chr2:54636902 A
A
 G
G
 2 a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0001g0302
a0001c0007t0001g0311
 2 HG00639.hp1
HG01256.hp2
HG00639.hp1
HG01256.hp2
 intron_variant MODIFIER c.3768-811A>G
c.3768-811A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636902
chr2:54636949 T
T
 C
C
 20 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(17): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
 20 HG02145.hp2
HG02602.hp1
HG02809.hp2
others(17): Show 
HG02145.hp2
HG02602.hp1
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19030.hp1
NA19090.hp2
 intron_variant MODIFIER c.3768-764T>C
c.3768-764T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636949
chr2:54636960 A
A
 C
C
 2 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0043
a0001c0007t0013g0044
 2 HG02145.hp2
HG03139.hp1
HG02145.hp2
HG03139.hp1
 intron_variant MODIFIER c.3768-753A>C
c.3768-753A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54636960
chr2:54637055 G
G
 A
A
 1 a0001c0008t0026g0365
a0001c0008t0026g0365
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.3768-658G>A
c.3768-658G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54637055
chr2:54637091 C
C
 G
G
 1 a0001c0015t0002g0220
a0001c0015t0002g0220
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.3768-622C>G
c.3768-622C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54637091
chr2:54637110 C
C
 A
A
 1 a0001c0014t0001g0013
a0001c0014t0001g0013
 1 NA18985.hp2
NA18985.hp2
 intron_variant MODIFIER c.3768-603C>A
c.3768-603C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54637110
chr2:54637156 G
G
 A
A
 2 a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0256
a0001c0003t0003g0257
 2 HG02630.hp2
HG02897.hp2
HG02630.hp2
HG02897.hp2
 intron_variant MODIFIER c.3768-557G>A
c.3768-557G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54637156
chr2:54637482 T
T
 G
G
 13 a0001c0001t0010g0238
a0001c0009t0002g0285
a0001c0009t0007g0272
others(10): Show 
a0001c0001t0010g0238
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 13 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(10): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02970.hp1
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.3768-231T>G
c.3768-231T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54637482
chr2:54637699 T
T
 C
C
 6 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(3): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0008t0026g0364
 6 HG00738.hp1
HG02257.hp2
HG02280.hp1
others(3): Show 
HG00738.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3768-14T>C
c.3768-14T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 17/35 chr2 54637699
chr2:54637827 A
A
 G
G
 12 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(9): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
 12 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(9): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19090.hp2
 intron_variant MODIFIER c.3858+24A>G
c.3858+24A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54637827
chr2:54637864 T
T
 C
C
 1 a0001c0001t0005g0341
a0001c0001t0005g0341
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.3858+61T>C
c.3858+61T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54637864
chr2:54638039 C
C
 T
T
 1 a0001c0001t0002g0090
a0001c0001t0002g0090
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.3858+236C>T
c.3858+236C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638039
chr2:54638193 G
G
 A
A
 2 a0001c0002t0001g0077
a0001c0002t0001g0287
a0001c0002t0001g0077
a0001c0002t0001g0287
 2 HG03491.hp2
HG03704.hp1
HG03491.hp2
HG03704.hp1
 intron_variant MODIFIER c.3858+390G>A
c.3858+390G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638193
chr2:54638203 G
G
 T
T
 20 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(17): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
 20 HG02145.hp2
HG02602.hp1
HG02809.hp2
others(17): Show 
HG02145.hp2
HG02602.hp1
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19030.hp1
NA19090.hp2
 intron_variant MODIFIER c.3858+400G>T
c.3858+400G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638203
chr2:54638390 G
G
 T
T
 216 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(213): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 216 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(213): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.3858+587G>T
c.3858+587G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638390
chr2:54638412 T
T
 C
C
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3858+609T>C
c.3858+609T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638412
chr2:54638423 A
A
 G
G
 55 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(52): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 55 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3858+620A>G
c.3858+620A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638423
chr2:54638477 A
A
 G
G
 3 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0031g0187
 3 HG02055.hp2
HG02818.hp1
HG03540.hp2
HG02055.hp2
HG02818.hp1
HG03540.hp2
 intron_variant MODIFIER c.3858+674A>G
c.3858+674A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638477
chr2:54638524 C
C
 T
T
 3 a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
 3 HG03490.hp2
HG03492.hp1
HG03831.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp1
 intron_variant MODIFIER c.3858+721C>T
c.3858+721C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638524
chr2:54638543 C
C
 T
T
 2 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0043
a0001c0007t0013g0044
 2 HG02145.hp2
HG03139.hp1
HG02145.hp2
HG03139.hp1
 intron_variant MODIFIER c.3858+740C>T
c.3858+740C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638543
chr2:54638598 C
C
 T
T
 2 a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0017t0002g0165
a0001c0017t0002g0226
 2 HG03942.hp1
HG04228.hp2
HG03942.hp1
HG04228.hp2
 intron_variant MODIFIER c.3858+795C>T
c.3858+795C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638598
chr2:54638631 G
G
 C
C
 1 a0001c0005t0008g0062
a0001c0005t0008g0062
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3858+828G>C
c.3858+828G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638631
chr2:54638683 T
T
 C
C
 229 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(226): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 229 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(226): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.3858+880T>C
c.3858+880T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638683
chr2:54638784 G
G
 A
A
 1 a0010c0034t0001g0002
a0010c0034t0001g0002
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.3858+981G>A
c.3858+981G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638784
chr2:54638789 TG
TG
 T
T
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.3858+991delG
c.3858+991delG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54638789
chr2:54638831 C
C
 T
T
 11 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(8): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0034g0003
a0008c0030t0030g0174
 11 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(8): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02717.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.3858+1028C>T
c.3858+1028C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638831
chr2:54638900 G
G
 T
T
 1 a0001c0014t0037g0011
a0001c0014t0037g0011
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.3858+1097G>T
c.3858+1097G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638900
chr2:54638937 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.3858+1134G>A
c.3858+1134G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54638937
chr2:54639016 A
A
 C
C
 1 a0001c0001t0040g0300
a0001c0001t0040g0300
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.3858+1213A>C
c.3858+1213A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639016
chr2:54639124 G
G
 A
A
 1 a0001c0001t0002g0301
a0001c0001t0002g0301
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.3858+1321G>A
c.3858+1321G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639124
chr2:54639291 G
G
 A
A
 7 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(4): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0003t0003g0036
a0001c0003t0003g0261
a0001c0003t0003g0305
 7 HG01167.hp2
HG01255.hp2
HG02109.hp1
others(4): Show 
HG01167.hp2
HG01255.hp2
HG02109.hp1
HG02451.hp2
HG02965.hp1
HG03098.hp1
HG06807.hp1
 intron_variant MODIFIER c.3858+1488G>A
c.3858+1488G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639291
chr2:54639334 A
A
 G
G
 1 a0001c0002t0001g0103
a0001c0002t0001g0103
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.3858+1531A>G
c.3858+1531A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639334
chr2:54639357 C
C
 G
G
 70 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(67): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0016t0005g0064
a0001c0016t0005g0099
a0003c0031t0004g0063
 70 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(67): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02280.hp2
HG02451.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.3858+1554C>G
c.3858+1554C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639357
chr2:54639451 G
G
 A
A
 4 a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
others(1): Show 
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
 4 HG02071.hp1
HG02135.hp1
HG02155.hp1
others(1): Show 
HG02071.hp1
HG02135.hp1
HG02155.hp1
NA18951.hp1
 intron_variant MODIFIER c.3858+1648G>A
c.3858+1648G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639451
chr2:54639452 A
A
 G
G
 19 a0001c0001t0004g0145
a0001c0001t0019g0031
a0001c0001t0019g0183
others(16): Show 
a0001c0001t0004g0145
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0006g0155
a0001c0008t0026g0364
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 19 HG00738.hp1
HG00738.hp2
HG01106.hp2
others(16): Show 
HG00738.hp1
HG00738.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA18952.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3858+1649A>G
c.3858+1649A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639452
chr2:54639466 C
C
 T
T
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.3858+1663C>T
c.3858+1663C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639466
chr2:54639526 A
A
 G
G
 1 a0001c0005t0008g0176
a0001c0005t0008g0176
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.3858+1723A>G
c.3858+1723A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639526
chr2:54639553 C
C
 G
G
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.3858+1750C>G
c.3858+1750C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639553
chr2:54639813 C
C
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.3858+2010C>G
c.3858+2010C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639813
chr2:54639825 C
C
 T
T
 24 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(21): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0146
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0001c0007t0001g0119
a0005c0028t0001g0006
 24 HG02080.hp2
HG02165.hp1
NA18944.hp2
others(21): Show 
HG02080.hp2
HG02165.hp1
NA18944.hp2
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19086.hp1
NA19088.hp2
 intron_variant MODIFIER c.3858+2022C>T
c.3858+2022C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639825
chr2:54639868 C
C
 T
T
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3858+2065C>T
c.3858+2065C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639868
chr2:54639913 A
A
 G
G
 1 a0001c0002t0006g0154
a0001c0002t0006g0154
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.3858+2110A>G
c.3858+2110A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54639913
chr2:54640004 G
G
 A
A
 3 a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
 3 HG03579.hp2
NA19043.hp2
NA20300.hp2
HG03579.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.3858+2201G>A
c.3858+2201G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640004
chr2:54640201 G
G
 A
A
 1 a0001c0003t0003g0356
a0001c0003t0003g0356
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.3858+2398G>A
c.3858+2398G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640201
chr2:54640262 G
G
 A
A
 4 a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
others(1): Show 
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 4 HG01346.hp2
HG03130.hp1
HG03209.hp1
others(1): Show 
HG01346.hp2
HG03130.hp1
HG03209.hp1
NA18906.hp1
 intron_variant MODIFIER c.3858+2459G>A
c.3858+2459G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640262
chr2:54640284 G
G
 T
T
 46 a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0347
others(43): Show 
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0003c0031t0004g0063
 46 HG00323.hp1
HG00741.hp2
HG01168.hp1
others(43): Show 
HG00323.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19030.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp2
 intron_variant MODIFIER c.3858+2481G>T
c.3858+2481G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640284
chr2:54640329 C
C
 G
G
 16 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(13): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
 16 HG02145.hp2
HG02602.hp1
HG03139.hp1
others(13): Show 
HG02145.hp2
HG02602.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19090.hp2
 intron_variant MODIFIER c.3858+2526C>G
c.3858+2526C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640329
chr2:54640359 C
C
 T
T
 47 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(44): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 47 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3858+2556C>T
c.3858+2556C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640359
chr2:54640403 AC
AC
 A
A
 16 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(13): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
 16 HG02145.hp2
HG02602.hp1
HG03139.hp1
others(13): Show 
HG02145.hp2
HG02602.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19090.hp2
 intron_variant MODIFIER c.3859-2575delC
c.3859-2575delC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54640403
chr2:54640404 C
C
 A
A
 24 a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0004t0007g0055
others(21): Show 
a0001c0001t0010g0238
a0001c0004t0002g0161
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
a0001c0033t0007g0248
 24 HG01071.hp2
HG01081.hp2
HG01106.hp2
others(21): Show 
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02145.hp1
HG02559.hp2
HG02647.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp1
HG06807.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.3859-2579C>A
c.3859-2579C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640404
chr2:54640462 C
C
 A
A
 5 a0001c0001t0002g0079
a0001c0001t0002g0208
a0001c0001t0002g0216
others(2): Show 
a0001c0001t0002g0079
a0001c0001t0002g0208
a0001c0001t0002g0216
a0001c0001t0002g0224
a0001c0001t0002g0239
 5 HG00558.hp1
NA18962.hp2
NA18968.hp1
others(2): Show 
HG00558.hp1
NA18962.hp2
NA18968.hp1
NA19076.hp1
NA19081.hp2
 intron_variant MODIFIER c.3859-2521C>A
c.3859-2521C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640462
chr2:54640539 T
T
 C
C
 7 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(4): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
 7 HG02109.hp2
HG02886.hp2
HG03453.hp1
others(4): Show 
HG02109.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.3859-2444T>C
c.3859-2444T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640539
chr2:54640550 T
T
 G
G
 1 a0001c0008t0005g0260
a0001c0008t0005g0260
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.3859-2433T>G
c.3859-2433T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640550
chr2:54640564 T
T
 G
G
 1 a0001c0004t0007g0057
a0001c0004t0007g0057
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.3859-2419T>G
c.3859-2419T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640564
chr2:54640597 GCTGGAAT
others(13): Show 
GCTGGAATACAGTGGTGGGAT
 G
G
 1 a0001c0001t0005g0341
a0001c0001t0005g0341
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.3859-2383_3859-236
others(24): Show 
c.3859-2383_3859-2364delGGAATACAGTGGTGGGATCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54640597
chr2:54640622 G
G
 C
C
 12 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(9): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
 12 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(9): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19005.hp2
NA19090.hp2
 intron_variant MODIFIER c.3859-2361G>C
c.3859-2361G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640622
chr2:54640632 G
G
 GC
GC
 69 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(66): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0003c0031t0004g0063
 69 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(66): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
HG03669.hp2
HG04184.hp1
HG04204.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.3859-2346dupC
c.3859-2346dupC
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54640632
chr2:54640964 A
A
 T
T
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3859-2019A>T
c.3859-2019A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54640964
chr2:54641002 A
A
 G
G
 3 a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
 3 HG02630.hp1
HG02886.hp1
HG03516.hp2
HG02630.hp1
HG02886.hp1
HG03516.hp2
 intron_variant MODIFIER c.3859-1981A>G
c.3859-1981A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641002
chr2:54641080 C
C
 T
T
 1 a0001c0002t0004g0101
a0001c0002t0004g0101
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.3859-1903C>T
c.3859-1903C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641080
chr2:54641084 G
G
 A
A
 1 a0001c0001t0005g0346
a0001c0001t0005g0346
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.3859-1899G>A
c.3859-1899G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641084
chr2:54641294 C
C
 T
T
 16 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(13): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
a0008c0030t0030g0174
 16 HG01109.hp2
HG02258.hp1
HG02615.hp2
others(13): Show 
HG01109.hp2
HG02258.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.3859-1689C>T
c.3859-1689C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641294
chr2:54641295 G
G
 GCT
GCT
 70 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(67): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0008t0026g0364
a0001c0033t0007g0248
a0003c0031t0004g0063
 70 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(67): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG04204.hp2
NA18940.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.3859-1673_3859-167
others(6): Show 
c.3859-1673_3859-1672dupCT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54641295
chr2:54641346 C
C
 T
T
 283 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(280): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 283 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(280): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3859-1637C>T
c.3859-1637C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641346
chr2:54641407 G
G
 A
A
 1 a0001c0002t0001g0273
a0001c0002t0001g0273
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.3859-1576G>A
c.3859-1576G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641407
chr2:54641424 A
A
 C
C
 1 a0001c0001t0040g0300
a0001c0001t0040g0300
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.3859-1559A>C
c.3859-1559A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641424
chr2:54641481 G
G
 A
A
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.3859-1502G>A
c.3859-1502G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641481
chr2:54641777 G
G
 A
A
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.3859-1206G>A
c.3859-1206G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641777
chr2:54641829 A
A
 C
C
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.3859-1154A>C
c.3859-1154A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641829
chr2:54641866 T
T
 G
G
 65 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(62): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0044g0297
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0003c0031t0004g0063
 65 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(62): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02080.hp1
HG02257.hp2
HG02451.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03669.hp2
HG04184.hp1
HG04204.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.3859-1117T>G
c.3859-1117T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54641866
chr2:54642144 C
C
 G
G
 47 a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
others(44): Show 
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 47 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3859-839C>G
c.3859-839C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54642144
chr2:54642235 A
A
 G
G
 2 a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0019g0183
a0001c0001t0049g0076
 2 HG00738.hp1
HG02280.hp1
HG00738.hp1
HG02280.hp1
 intron_variant MODIFIER c.3859-748A>G
c.3859-748A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54642235
chr2:54642288 G
G
 A
A
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.3859-695G>A
c.3859-695G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54642288
chr2:54642498 C
C
 G
G
 3 a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
 3 HG02071.hp1
HG02135.hp1
HG02155.hp1
HG02071.hp1
HG02135.hp1
HG02155.hp1
 intron_variant MODIFIER c.3859-485C>G
c.3859-485C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54642498
chr2:54642528 A
A
 AGTTT
AGTTT
 7 a0001c0001t0004g0142
a0001c0002t0001g0307
a0001c0007t0013g0043
others(4): Show 
a0001c0001t0004g0142
a0001c0002t0001g0307
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0014t0037g0011
 7 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(4): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
NA18977.hp1
NA19079.hp1
NA19086.hp1
 intron_variant MODIFIER c.3859-454_3859-451d
others(6): Show 
c.3859-454_3859-451dupGTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54642528
chr2:54642529 G
G
 GT
GT
 11 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0050
others(8): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0021g0040
a0001c0005t0021g0052
 11 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(8): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA19240.hp2
 intron_variant MODIFIER c.3859-436dupT
c.3859-436dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54642529
chr2:54642529 G
G
 GTTT
GTTT
 20 a0001c0004t0002g0161
a0001c0004t0007g0057
a0001c0004t0007g0173
others(17): Show 
a0001c0004t0002g0161
a0001c0004t0007g0057
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
a0001c0033t0007g0248
 20 HG01071.hp2
HG01106.hp2
HG01167.hp1
others(17): Show 
HG01071.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02559.hp2
HG02647.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03492.hp2
HG03688.hp2
HG03927.hp1
HG06807.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.3859-438_3859-436d
others(5): Show 
c.3859-438_3859-436dupTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54642529
chr2:54642529 G
G
 GTTTGT
GTTTGT
 14 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0189
others(11): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0189
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
 14 HG02602.hp1
HG02895.hp2
HG03225.hp1
others(11): Show 
HG02602.hp1
HG02895.hp2
HG03225.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19030.hp1
NA19090.hp2
 intron_variant MODIFIER c.3859-451_3859-450i
others(7): Show 
c.3859-451_3859-450insGTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54642529
chr2:54642529 G
G
 GTTTTT
GTTTTT
 6 a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
others(3): Show 
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0012t0016g0153
 6 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(3): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
HG02809.hp2
HG02970.hp1
NA20300.hp1
 intron_variant MODIFIER c.3859-440_3859-436d
others(7): Show 
c.3859-440_3859-436dupTTTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54642529
chr2:54642530 T
T
 TTTG
TTTG
 151 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(148): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0308
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0027g0053
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0031g0187
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0003c0031t0004g0063
a0005c0028t0001g0006
a0010c0034t0001g0002
 151 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(148): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.3859-451_3859-450i
others(5): Show 
c.3859-451_3859-450insGTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54642530
chr2:54642531 T
T
 TTG
TTG
 51 a0001c0002t0001g0082
a0001c0002t0001g0121
a0001c0002t0001g0310
others(48): Show 
a0001c0002t0001g0082
a0001c0002t0001g0121
a0001c0002t0001g0310
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0166
a0001c0004t0004g0209
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
a0007c0024t0009g0232
 51 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(48): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18940.hp1
NA18941.hp2
NA18950.hp1
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA18989.hp2
NA18992.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19082.hp2
NA19085.hp1
NA19086.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.3859-451_3859-450i
others(4): Show 
c.3859-451_3859-450insGT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 INFO_REALIGN_3_PRIME chr2 54642531
chr2:54642534 T
T
 G
G
 6 a0001c0002t0001g0111
a0001c0002t0001g0204
a0001c0002t0001g0274
others(3): Show 
a0001c0002t0001g0111
a0001c0002t0001g0204
a0001c0002t0001g0274
a0001c0002t0001g0312
a0001c0002t0028g0294
a0001c0002t0028g0295
 6 HG00280.hp2
HG00323.hp2
HG00741.hp1
others(3): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp1
HG02300.hp1
HG02486.hp1
NA20752.hp2
 intron_variant MODIFIER c.3859-449T>G
c.3859-449T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54642534
chr2:54642769 T
T
 C
C
 7 a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
others(4): Show 
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 7 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(4): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.3859-214T>C
c.3859-214T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54642769
chr2:54642829 G
G
 C
C
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.3859-154G>C
c.3859-154G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54642829
chr2:54642905 T
T
 C
C
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.3859-78T>C
c.3859-78T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 18/35 chr2 54642905
chr2:54643158 G
G
 A
A
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.4005+29G>A
c.4005+29G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643158
chr2:54643386 G
G
 A
A
 2 a0001c0005t0008g0041
a0001c0005t0021g0040
a0001c0005t0008g0041
a0001c0005t0021g0040
 2 HG02486.hp2
HG02818.hp2
HG02486.hp2
HG02818.hp2
 intron_variant MODIFIER c.4005+257G>A
c.4005+257G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643386
chr2:54643636 C
C
 T
T
 3 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
 3 HG00738.hp1
HG02280.hp1
NA20300.hp1
HG00738.hp1
HG02280.hp1
NA20300.hp1
 intron_variant MODIFIER c.4005+507C>T
c.4005+507C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643636
chr2:54643752 G
G
 A
A
 2 a0001c0001t0014g0097
a0009c0022t0051g0078
a0001c0001t0014g0097
a0009c0022t0051g0078
 2 HG03490.hp1
HG03688.hp1
HG03490.hp1
HG03688.hp1
 intron_variant MODIFIER c.4006-571G>A
c.4006-571G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643752
chr2:54643771 G
G
 T
T
 236 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(233): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 236 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(233): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.4006-552G>T
c.4006-552G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643771
chr2:54643776 G
G
 C
C
 1 a0001c0004t0004g0107
a0001c0004t0004g0107
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.4006-547G>C
c.4006-547G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643776
chr2:54643865 C
C
 A
A
 2 a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0027g0053
a0001c0003t0027g0054
 2 NA18906.hp2
NA19240.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.4006-458C>A
c.4006-458C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643865
chr2:54643893 G
G
 A
A
 1 a0001c0002t0001g0204
a0001c0002t0001g0204
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.4006-430G>A
c.4006-430G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643893
chr2:54643958 C
C
 T
T
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 9 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(6): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.4006-365C>T
c.4006-365C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54643958
chr2:54643982 CAAT
CAAT
 C
C
 210 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
others(207): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0021
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0128
a0001c0001t0002g0163
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0169
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0210
a0001c0001t0002g0214
a0001c0001t0002g0215
a0001c0001t0002g0216
a0001c0001t0002g0217
a0001c0001t0002g0219
a0001c0001t0002g0224
a0001c0001t0002g0225
a0001c0001t0002g0239
a0001c0001t0002g0249
a0001c0001t0002g0293
a0001c0001t0002g0301
a0001c0001t0002g0316
a0001c0001t0002g0338
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0367
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0106
a0001c0001t0005g0126
a0001c0001t0005g0136
a0001c0001t0005g0203
a0001c0001t0005g0206
a0001c0001t0005g0211
a0001c0001t0005g0221
a0001c0001t0005g0291
a0001c0001t0005g0309
a0001c0001t0005g0322
a0001c0001t0005g0341
a0001c0001t0005g0342
a0001c0001t0005g0343
a0001c0001t0005g0344
a0001c0001t0005g0345
a0001c0001t0005g0346
a0001c0001t0005g0353
a0001c0001t0005g0354
a0001c0001t0007g0019
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0097
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0020g0022
a0001c0001t0020g0023
a0001c0001t0020g0032
a0001c0001t0022g0118
a0001c0001t0022g0164
a0001c0001t0039g0058
a0001c0001t0040g0300
a0001c0001t0041g0247
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0261
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0010t0002g0140
a0001c0010t0002g0199
a0001c0010t0017g0150
a0001c0010t0017g0162
a0001c0010t0017g0198
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0015t0002g0212
a0001c0015t0002g0220
a0001c0017t0002g0165
a0001c0017t0002g0226
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0020t0002g0034
a0001c0023t0005g0283
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0008c0030t0030g0174
a0009c0022t0051g0078
 210 HG00099.hp2
HG00323.hp1
HG00408.hp2
others(207): Show 
HG00099.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00639.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp2
NA18941.hp1
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp2
NA18974.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19010.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19076.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4006-313_4006-311d
others(5): Show 
c.4006-313_4006-311delAAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 INFO_REALIGN_3_PRIME chr2 54643982
chr2:54643982 CAATAAT
CAATAAT
 C
C
 156 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0002t0001g0009
others(153): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
 156 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(153): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.4006-316_4006-311d
others(8): Show 
c.4006-316_4006-311delAATAAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 INFO_REALIGN_3_PRIME chr2 54643982
chr2:54644140 T
T
 A
A
 230 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(227): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 230 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.4006-183T>A
c.4006-183T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54644140
chr2:54644197 G
G
 A
A
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.4006-126G>A
c.4006-126G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54644197
chr2:54644224 G
G
 A
A
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.4006-99G>A
c.4006-99G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54644224
chr2:54644238 C
C
 T
T
 1 a0001c0008t0005g0045
a0001c0008t0005g0045
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.4006-85C>T
c.4006-85C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 19/35 chr2 54644238
chr2:54644590 A
A
 G
G
 1 a0001c0003t0009g0227
a0001c0003t0009g0227
 1 NA18941.hp2
NA18941.hp2
 splice_region_variant&intron_variant LOW c.4269+4A>G
c.4269+4A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 20/35 chr2 54644590
chr2:54644762 C
C
 T
T
 1 a0001c0005t0008g0049
a0001c0005t0008g0049
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.4269+176C>T
c.4269+176C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 20/35 chr2 54644762
chr2:54645206 T
T
 G
G
 3 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
 3 HG02055.hp2
HG02280.hp2
HG02818.hp1
HG02055.hp2
HG02280.hp2
HG02818.hp1
 intron_variant MODIFIER c.4270-23T>G
c.4270-23T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 20/35 chr2 54645206
chr2:54645489 C
C
 T
T
 3 a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
 3 HG02027.hp2
NA18990.hp1
NA19074.hp1
HG02027.hp2
NA18990.hp1
NA19074.hp1
 intron_variant MODIFIER c.4494+36C>T
c.4494+36C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 21/35 chr2 54645489
chr2:54645544 T
T
 G
G
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 9 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(6): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.4494+91T>G
c.4494+91T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 21/35 chr2 54645544
chr2:54645552 C
C
 T
T
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.4494+99C>T
c.4494+99C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 21/35 chr2 54645552
chr2:54645652 A
A
 G
G
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
 5 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(2): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.4494+199A>G
c.4494+199A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 21/35 chr2 54645652
chr2:54645850 A
A
 G
G
 1 a0002c0006t0003g0014
a0002c0006t0003g0014
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.4495-78A>G
c.4495-78A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 21/35 chr2 54645850
chr2:54645920 C
C
 T
T
 1 a0001c0004t0007g0110
a0001c0004t0007g0110
 1 HG01081.hp2
HG01081.hp2
 splice_region_variant&intron_variant LOW c.4495-8C>T
c.4495-8C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 21/35 chr2 54645920
chr2:54647036 C
C
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.4867-95C>T
c.4867-95C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 23/35 chr2 54647036
chr2:54647508 A
A
 G
G
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 9 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(6): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.4997+247A>G
c.4997+247A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54647508
chr2:54647929 A
A
 G
G
 4 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(1): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
 4 HG01167.hp2
HG01255.hp2
HG02451.hp2
others(1): Show 
HG01167.hp2
HG01255.hp2
HG02451.hp2
HG06807.hp1
 intron_variant MODIFIER c.4997+668A>G
c.4997+668A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54647929
chr2:54648050 C
C
 T
T
 1 a0001c0002t0006g0114
a0001c0002t0006g0114
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.4997+789C>T
c.4997+789C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648050
chr2:54648085 G
G
 T
T
 3 a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
 3 HG02027.hp2
NA18990.hp1
NA19074.hp1
HG02027.hp2
NA18990.hp1
NA19074.hp1
 intron_variant MODIFIER c.4997+824G>T
c.4997+824G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648085
chr2:54648107 G
G
 A
A
 3 a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
 3 HG01884.hp2
HG02630.hp2
HG02897.hp2
HG01884.hp2
HG02630.hp2
HG02897.hp2
 intron_variant MODIFIER c.4997+846G>A
c.4997+846G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648107
chr2:54648238 T
T
 G
G
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.4998-748T>G
c.4998-748T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648238
chr2:54648239 G
G
 A
A
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
 4 HG00738.hp1
HG02280.hp1
NA20300.hp1
others(1): Show 
HG00738.hp1
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.4998-747G>A
c.4998-747G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648239
chr2:54648305 T
T
 C
C
 1 a0001c0017t0002g0165
a0001c0017t0002g0165
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.4998-681T>C
c.4998-681T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648305
chr2:54648595 G
G
 T
T
 3 a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0304
 3 HG01884.hp2
HG02630.hp2
HG02897.hp2
HG01884.hp2
HG02630.hp2
HG02897.hp2
 intron_variant MODIFIER c.4998-391G>T
c.4998-391G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648595
chr2:54648662 G
G
 A
A
 10 a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
others(7): Show 
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
 10 HG01071.hp2
HG01081.hp2
HG01981.hp1
others(7): Show 
HG01071.hp2
HG01081.hp2
HG01981.hp1
HG02145.hp1
HG02647.hp2
HG02922.hp2
HG03688.hp2
HG03927.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.4998-324G>A
c.4998-324G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648662
chr2:54648939 T
T
 G
G
 4 a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
a0001c0001t0007g0347
 4 HG02027.hp2
NA18990.hp1
NA18994.hp1
others(1): Show 
HG02027.hp2
NA18990.hp1
NA18994.hp1
NA19074.hp1
 intron_variant MODIFIER c.4998-47T>G
c.4998-47T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648939
chr2:54648943 A
A
 G
G
 1 a0001c0007t0001g0192
a0001c0007t0001g0192
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.4998-43A>G
c.4998-43A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 24/35 chr2 54648943
chr2:54649219 G
G
 A
A
 10 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(7): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0029t0007g0290
 10 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(7): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.5202+29G>A
c.5202+29G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 25/35 chr2 54649219
chr2:54649224 G
G
 T
T
 1 a0001c0001t0007g0270
a0001c0001t0007g0270
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.5202+34G>T
c.5202+34G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 25/35 chr2 54649224
chr2:54649238 T
T
 C
C
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
 5 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(2): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.5202+48T>C
c.5202+48T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 25/35 chr2 54649238
chr2:54649285 T
T
 C
C
 10 a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
others(7): Show 
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0025t0003g0352
a0001c0026t0006g0102
a0006c0027t0003g0075
 10 HG00423.hp1
HG00438.hp1
HG00609.hp2
others(7): Show 
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG02015.hp2
HG02135.hp2
NA18951.hp2
NA18986.hp1
NA18992.hp1
NA19012.hp2
NA19084.hp2
 intron_variant MODIFIER c.5202+95T>C
c.5202+95T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 25/35 chr2 54649285
chr2:54649408 G
G
 T
T
 1 a0001c0002t0006g0271
a0001c0002t0006g0271
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.5203-207G>T
c.5203-207G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 25/35 chr2 54649408
chr2:54650009 A
A
 G
G
 66 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(63): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0004g0170
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 66 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(63): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.5577+20A>G
c.5577+20A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650009
chr2:54650100 A
A
 G
G
 5 a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
others(2): Show 
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0025t0003g0352
a0006c0027t0003g0075
 5 HG00423.hp1
HG00609.hp2
HG02015.hp2
others(2): Show 
HG00423.hp1
HG00609.hp2
HG02015.hp2
HG02135.hp2
NA18986.hp1
 intron_variant MODIFIER c.5577+111A>G
c.5577+111A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650100
chr2:54650162 T
T
 A
A
 1 a0001c0005t0003g0182
a0001c0005t0003g0182
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5577+173T>A
c.5577+173T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650162
chr2:54650228 C
C
 T
T
 51 a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0014g0104
others(48): Show 
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0003t0004g0024
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0003c0031t0004g0063
a0004c0032t0004g0329
 51 HG00323.hp1
HG01168.hp1
HG01169.hp1
others(48): Show 
HG00323.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02257.hp2
HG02451.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
HG03669.hp2
HG04184.hp1
HG04204.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19030.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.5577+239C>T
c.5577+239C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650228
chr2:54650473 CAG
CAG
 C
C
 7 a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
others(4): Show 
a0001c0005t0008g0041
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 7 HG02486.hp2
HG02559.hp1
HG02572.hp1
others(4): Show 
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.5577+486_5577+487d
others(4): Show 
c.5577+486_5577+487delGA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 INFO_REALIGN_3_PRIME chr2 54650473
chr2:54650652 G
G
 T
T
 2 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0043
a0001c0007t0013g0044
 2 HG02145.hp2
HG03139.hp1
HG02145.hp2
HG03139.hp1
 intron_variant MODIFIER c.5577+663G>T
c.5577+663G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650652
chr2:54650718 G
G
 A
A
 4 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(1): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.5577+729G>A
c.5577+729G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650718
chr2:54650765 A
A
 G
G
 1 a0001c0003t0003g0177
a0001c0003t0003g0177
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.5577+776A>G
c.5577+776A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650765
chr2:54650779 A
A
 G
G
 1 a0001c0005t0025g0240
a0001c0005t0025g0240
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.5577+790A>G
c.5577+790A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650779
chr2:54650956 A
A
 T
T
 8 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(5): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
 8 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(5): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.5577+967A>T
c.5577+967A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54650956
chr2:54651032 G
G
 T
T
 11 a0001c0004t0002g0161
a0001c0004t0007g0055
a0001c0004t0007g0057
others(8): Show 
a0001c0004t0002g0161
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
 11 HG01071.hp2
HG01081.hp2
HG01981.hp1
others(8): Show 
HG01071.hp2
HG01081.hp2
HG01981.hp1
HG02145.hp1
HG02647.hp2
HG02922.hp2
HG03195.hp1
HG03688.hp2
HG03927.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.5577+1043G>T
c.5577+1043G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54651032
chr2:54651269 A
A
 T
T
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
 5 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(2): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.5577+1280A>T
c.5577+1280A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54651269
chr2:54651328 C
C
 T
T
 43 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(40): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0029t0007g0290
a0008c0030t0030g0174
 43 HG01106.hp2
HG01109.hp2
HG01167.hp1
others(40): Show 
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.5577+1339C>T
c.5577+1339C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54651328
chr2:54651379 G
G
 GT
GT
 286 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0020
others(283): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0020
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 286 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(283): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.5577+1392dupT
c.5577+1392dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 INFO_REALIGN_3_PRIME chr2 54651379
chr2:54651506 C
C
 G
G
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.5577+1517C>G
c.5577+1517C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54651506
chr2:54651615 G
G
 A
A
 1 a0001c0025t0003g0352
a0001c0025t0003g0352
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.5577+1626G>A
c.5577+1626G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54651615
chr2:54651618 A
A
 G
G
 1 a0001c0003t0032g0321
a0001c0003t0032g0321
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.5577+1629A>G
c.5577+1629A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54651618
chr2:54651750 T
T
 C
C
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.5577+1761T>C
c.5577+1761T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54651750
chr2:54651958 C
C
 G
G
 1 a0001c0001t0002g0338
a0001c0001t0002g0338
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.5578-1651C>G
c.5578-1651C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54651958
chr2:54652048 C
C
 G
G
 1 a0001c0010t0017g0150
a0001c0010t0017g0150
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.5578-1561C>G
c.5578-1561C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652048
chr2:54652290 C
C
 T
T
 3 a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0151
a0002c0006t0003g0178
a0002c0006t0003g0179
 3 NA18957.hp2
NA18989.hp1
NA18994.hp2
NA18957.hp2
NA18989.hp1
NA18994.hp2
 intron_variant MODIFIER c.5578-1319C>T
c.5578-1319C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652290
chr2:54652298 A
A
 C
C
 96 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0014g0104
others(93): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0021t0001g0197
a0001c0026t0006g0102
a0005c0028t0001g0006
a0010c0034t0001g0002
 96 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(93): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03491.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.5578-1311A>C
c.5578-1311A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652298
chr2:54652409 A
A
 G
G
 4 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(1): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.5578-1200A>G
c.5578-1200A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652409
chr2:54652441 A
A
 G
G
 2 a0001c0001t0014g0097
a0009c0022t0051g0078
a0001c0001t0014g0097
a0009c0022t0051g0078
 2 HG03490.hp1
HG03688.hp1
HG03490.hp1
HG03688.hp1
 intron_variant MODIFIER c.5578-1168A>G
c.5578-1168A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652441
chr2:54652449 C
C
 A
A
 2 a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0016t0005g0064
a0001c0016t0005g0099
 2 HG03654.hp1
HG03942.hp2
HG03654.hp1
HG03942.hp2
 intron_variant MODIFIER c.5578-1160C>A
c.5578-1160C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652449
chr2:54652659 A
A
 AT
AT
 8 a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
others(5): Show 
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0036g0361
 8 HG00099.hp1
HG01106.hp1
HG01109.hp1
others(5): Show 
HG00099.hp1
HG01106.hp1
HG01109.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02258.hp2
HG02698.hp2
 intron_variant MODIFIER c.5578-947dupT
c.5578-947dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 INFO_REALIGN_3_PRIME chr2 54652659
chr2:54652696 T
T
 A
A
 1 a0001c0002t0029g0339
a0001c0002t0029g0339
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.5578-913T>A
c.5578-913T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652696
chr2:54652877 T
T
 TTTTC
TTTTC
 21 a0001c0001t0002g0350
a0001c0005t0003g0004
a0001c0005t0003g0005
others(18): Show 
a0001c0001t0002g0350
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0008g0041
a0001c0005t0008g0056
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0043g0039
a0001c0019t0012g0246
a0001c0019t0012g0252
 21 HG01109.hp2
HG02109.hp2
HG02258.hp1
others(18): Show 
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA19090.hp1
NA21309.hp2
 intron_variant MODIFIER c.5578-708_5578-705d
others(6): Show 
c.5578-708_5578-705dupCTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 INFO_REALIGN_3_PRIME chr2 54652877
chr2:54652877 T
T
 TTTTCTTT
others(1): Show 
TTTTCTTTC
 11 a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0048
others(8): Show 
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0031g0187
a0001c0005t0034g0003
a0008c0030t0030g0174
 11 HG02615.hp2
HG02717.hp2
HG02886.hp2
others(8): Show 
HG02615.hp2
HG02717.hp2
HG02886.hp2
HG03130.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.5578-712_5578-705d
others(10): Show 
c.5578-712_5578-705dupCTTTCTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 INFO_REALIGN_3_PRIME chr2 54652877
chr2:54652877 TTTTC
TTTTC
 T
T
 155 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(152): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 155 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(152): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02602.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18951.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.5578-708_5578-705d
others(6): Show 
c.5578-708_5578-705delCTTT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 INFO_REALIGN_3_PRIME chr2 54652877
chr2:54652910 ATGAC
ATGAC
 A
A
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
 4 HG00738.hp1
HG02280.hp1
NA20300.hp1
others(1): Show 
HG00738.hp1
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.5578-696_5578-693d
others(6): Show 
c.5578-696_5578-693delACTG
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 INFO_REALIGN_3_PRIME chr2 54652910
chr2:54652912 G
G
 C
C
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0026t0006g0102
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00558.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.5578-697G>C
c.5578-697G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652912
chr2:54652949 T
T
 C
C
 1 a0001c0013t0015g0255
a0001c0013t0015g0255
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.5578-660T>C
c.5578-660T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54652949
chr2:54653071 G
G
 A
A
 1 a0001c0001t0002g0033
a0001c0001t0002g0033
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.5578-538G>A
c.5578-538G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54653071
chr2:54653490 T
T
 C
C
 9 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(6): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 9 HG00738.hp1
HG02145.hp2
HG02280.hp1
others(6): Show 
HG00738.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.5578-119T>C
c.5578-119T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54653490
chr2:54653506 T
T
 A
A
 1 a0001c0021t0001g0197
a0001c0021t0001g0197
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.5578-103T>A
c.5578-103T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 26/35 chr2 54653506
chr2:54653868 C
C
 G
G
 1 a0001c0004t0004g0134
a0001c0004t0004g0134
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.5822+15C>G
c.5822+15C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/35 chr2 54653868
chr2:54654339 A
A
 G
G
 60 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(57): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.5822+486A>G
c.5822+486A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/35 chr2 54654339
chr2:54654484 T
T
 C
C
 187 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
others(184): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0029g0100
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0035g0042
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 187 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(184): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18951.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.5823-586T>C
c.5823-586T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/35 chr2 54654484
chr2:54654579 T
T
 C
C
 2 a0001c0001t0002g0015
a0001c0001t0002g0030
a0001c0001t0002g0015
a0001c0001t0002g0030
 2 NA19012.hp1
NA19083.hp1
NA19012.hp1
NA19083.hp1
 intron_variant MODIFIER c.5823-491T>C
c.5823-491T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/35 chr2 54654579
chr2:54654759 A
A
 G
G
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.5823-311A>G
c.5823-311A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/35 chr2 54654759
chr2:54654942 C
C
 G
G
 2 a0001c0001t0002g0079
a0001c0001t0022g0118
a0001c0001t0002g0079
a0001c0001t0022g0118
 2 NA18968.hp1
NA19002.hp2
NA18968.hp1
NA19002.hp2
 intron_variant MODIFIER c.5823-128C>G
c.5823-128C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/35 chr2 54654942
chr2:54654949 G
G
 A
A
 2 a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0019t0012g0246
a0001c0019t0012g0252
 2 HG02622.hp2
HG03540.hp1
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.5823-121G>A
c.5823-121G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/35 chr2 54654949
chr2:54654954 ACCATCAG
others(12): Show 
ACCATCAGTTTCTTTCAAGG
 A
A
 89 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(86): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0026t0006g0102
a0005c0028t0001g0006
a0010c0034t0001g0002
 89 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(86): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.5823-98_5823-80del
others(19): Show 
c.5823-98_5823-80delGGCCATCAGTTTCTTTCAA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 27/35 INFO_REALIGN_3_PRIME chr2 54654954
chr2:54655244 G
G
 A
A
 60 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(57): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 60 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(57): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.5961+36G>A
c.5961+36G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 28/35 chr2 54655244
chr2:54655256 A
A
 G
G
 2 a0001c0001t0019g0241
a0001c0001t0050g0242
a0001c0001t0019g0241
a0001c0001t0050g0242
 2 HG02280.hp2
NA21309.hp1
HG02280.hp2
NA21309.hp1
 intron_variant MODIFIER c.5961+48A>G
c.5961+48A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 28/35 chr2 54655256
chr2:54655311 TACAC
TACAC
 T
T
 8 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
others(5): Show 
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
 8 HG02615.hp2
HG03041.hp2
HG03130.hp2
others(5): Show 
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
NA18522.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.5961+111_5961+114d
others(6): Show 
c.5961+111_5961+114delCACA
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 28/35 INFO_REALIGN_3_PRIME chr2 54655311
chr2:54655541 G
G
 A
A
 87 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(84): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0004t0010g0315
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0026t0006g0102
a0005c0028t0001g0006
a0010c0034t0001g0002
 87 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(84): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.5961+333G>A
c.5961+333G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 28/35 chr2 54655541
chr2:54655576 G
G
 C
C
 68 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(65): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0044g0297
a0001c0003t0004g0024
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0010g0348
a0001c0005t0031g0187
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0003c0031t0004g0063
a0004c0032t0004g0329
 68 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(65): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02080.hp1
HG02257.hp2
HG02451.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03540.hp2
HG03669.hp2
HG03688.hp2
HG04184.hp1
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19012.hp2
NA19030.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.5962-338G>C
c.5962-338G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 28/35 chr2 54655576
chr2:54655679 C
C
 T
T
 11 a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
others(8): Show 
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
 11 HG02602.hp1
HG04204.hp1
HG04228.hp1
others(8): Show 
HG02602.hp1
HG04204.hp1
HG04228.hp1
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.5962-235C>T
c.5962-235C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 28/35 chr2 54655679
chr2:54656021 T
T
 G
G
 1 a0001c0002t0001g0334
a0001c0002t0001g0334
 1 NA19076.hp2
NA19076.hp2
 intron_variant MODIFIER c.6046+23T>G
c.6046+23T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656021
chr2:54656087 A
A
 G
G
 2 a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0012g0369
a0001c0005t0012g0370
 2 HG01109.hp2
HG02258.hp1
HG01109.hp2
HG02258.hp1
 intron_variant MODIFIER c.6046+89A>G
c.6046+89A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656087
chr2:54656420 G
G
 T
T
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.6046+422G>T
c.6046+422G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656420
chr2:54656466 C
C
 T
T
 1 a0001c0002t0006g0149
a0001c0002t0006g0149
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.6046+468C>T
c.6046+468C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656466
chr2:54656489 A
A
 T
T
 1 a0001c0001t0002g0349
a0001c0001t0002g0349
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.6046+491A>T
c.6046+491A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656489
chr2:54656648 C
C
 T
T
 9 a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0133
others(6): Show 
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0133
a0001c0002t0001g0147
a0001c0002t0001g0273
a0001c0002t0001g0275
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0029g0339
 9 HG00140.hp1
HG00639.hp2
HG00735.hp1
others(6): Show 
HG00140.hp1
HG00639.hp2
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01192.hp2
HG01257.hp1
HG02293.hp2
HG02683.hp1
 intron_variant MODIFIER c.6046+650C>T
c.6046+650C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656648
chr2:54656884 G
G
 T
T
 1 a0001c0003t0003g0262
a0001c0003t0003g0262
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.6046+886G>T
c.6046+886G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656884
chr2:54656919 C
C
 T
T
 15 a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
others(12): Show 
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 15 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(12): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.6046+921C>T
c.6046+921C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656919
chr2:54656937 T
T
 C
C
 98 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(95): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0003t0004g0024
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0003c0031t0004g0063
a0004c0032t0004g0329
a0008c0030t0030g0174
 98 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(95): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01109.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG04184.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.6047-913T>C
c.6047-913T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54656937
chr2:54657132 C
C
 A
A
 20 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(17): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0005c0028t0001g0006
 20 HG02080.hp2
HG02165.hp1
NA18959.hp2
others(17): Show 
HG02080.hp2
HG02165.hp1
NA18959.hp2
NA18962.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19086.hp1
NA19088.hp2
 intron_variant MODIFIER c.6047-718C>A
c.6047-718C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657132
chr2:54657154 G
G
 A
A
 21 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(18): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0186
a0001c0002t0001g0231
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0334
a0001c0002t0001g0359
a0001c0002t0006g0114
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0046g0332
a0005c0028t0001g0006
 21 HG02080.hp2
HG02165.hp1
NA18959.hp2
others(18): Show 
HG02080.hp2
HG02165.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19082.hp1
NA19086.hp1
NA19088.hp2
 intron_variant MODIFIER c.6047-696G>A
c.6047-696G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657154
chr2:54657180 T
T
 G
G
 2 a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0019t0012g0246
a0001c0019t0012g0252
 2 HG02622.hp2
HG03540.hp1
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.6047-670T>G
c.6047-670T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657180
chr2:54657185 G
G
 A
A
 1 a0001c0002t0001g0186
a0001c0002t0001g0186
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.6047-665G>A
c.6047-665G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657185
chr2:54657286 G
G
 T
T
 1 a0001c0004t0010g0109
a0001c0004t0010g0109
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.6047-564G>T
c.6047-564G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657286
chr2:54657342 A
A
 G
G
 1 a0001c0002t0001g0310
a0001c0002t0001g0310
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.6047-508A>G
c.6047-508A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657342
chr2:54657596 C
C
 G
G
 4 a0001c0002t0001g0308
a0001c0002t0006g0323
a0001c0002t0006g0327
others(1): Show 
a0001c0002t0001g0308
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
 4 NA18968.hp2
NA18971.hp1
NA18998.hp1
others(1): Show 
NA18968.hp2
NA18971.hp1
NA18998.hp1
NA19065.hp1
 intron_variant MODIFIER c.6047-254C>G
c.6047-254C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657596
chr2:54657680 T
T
 C
C
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.6047-170T>C
c.6047-170T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657680
chr2:54657733 C
C
 T
T
 185 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(182): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 185 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(182): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18979.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6047-117C>T
c.6047-117C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657733
chr2:54657799 C
C
 T
T
 1 a0001c0005t0025g0250
a0001c0005t0025g0250
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.6047-51C>T
c.6047-51C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 29/35 chr2 54657799
chr2:54658177 A
A
 T
T
 280 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(277): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 280 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(277): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6243+131A>T
c.6243+131A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 30/35 chr2 54658177
chr2:54658233 A
A
 T
T
 86 a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
others(83): Show 
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0026t0006g0102
a0005c0028t0001g0006
a0010c0034t0001g0002
 86 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(83): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG03017.hp2
HG03491.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.6243+187A>T
c.6243+187A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 30/35 chr2 54658233
chr2:54658277 T
T
 C
C
 1 a0001c0002t0006g0160
a0001c0002t0006g0160
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.6243+231T>C
c.6243+231T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 30/35 chr2 54658277
chr2:54658294 G
G
 A
A
 1 a0001c0005t0008g0056
a0001c0005t0008g0056
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.6243+248G>A
c.6243+248G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 30/35 chr2 54658294
chr2:54658459 G
G
 T
T
 101 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(98): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0026t0006g0102
a0005c0028t0001g0006
a0010c0034t0001g0002
 101 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(98): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03491.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20300.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.6243+413G>T
c.6243+413G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 30/35 chr2 54658459
chr2:54658503 T
T
 A
A
 136 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(133): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
 136 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(133): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18979.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19043.hp2
NA19055.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.6243+457T>A
c.6243+457T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 30/35 chr2 54658503
chr2:54659293 G
G
 T
T
 2 a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0007t0013g0108
a0001c0007t0013g0137
 2 HG03139.hp2
HG03195.hp2
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.6356+27G>T
c.6356+27G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 31/35 chr2 54659293
chr2:54659358 C
C
 G
G
 16 a0001c0003t0003g0037
a0001c0005t0008g0041
a0001c0005t0008g0048
others(13): Show 
a0001c0003t0003g0037
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0021g0040
a0001c0005t0021g0052
 16 HG02109.hp2
HG02486.hp2
HG02559.hp1
others(13): Show 
HG02109.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.6356+92C>G
c.6356+92C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 31/35 chr2 54659358
chr2:54659468 T
T
 C
C
 58 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(55): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 58 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(55): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.6356+202T>C
c.6356+202T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 31/35 chr2 54659468
chr2:54659604 G
G
 A
A
 8 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(5): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 8 HG02145.hp2
HG02809.hp2
HG02895.hp2
others(5): Show 
HG02145.hp2
HG02809.hp2
HG02895.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.6357-332G>A
c.6357-332G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 31/35 chr2 54659604
chr2:54659604 G
G
 GT
GT
 137 a0001c0001t0002g0017
a0001c0001t0003g0059
a0001c0001t0003g0060
others(134): Show 
a0001c0001t0002g0017
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0006c0027t0003g0075
a0007c0024t0009g0232
 137 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(134): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02080.hp1
HG02109.hp1
HG02135.hp2
HG02145.hp1
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18974.hp1
NA18979.hp1
NA18982.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19043.hp2
NA19055.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.6357-326dupT
c.6357-326dupT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 31/35 INFO_REALIGN_3_PRIME chr2 54659604
chr2:54659885 C
C
 G
G
 1 a0008c0030t0030g0174
a0008c0030t0030g0174
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.6357-51C>G
c.6357-51C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 31/35 chr2 54659885
chr2:54660054 A
A
 G
G
 1 a0001c0003t0003g0074
a0001c0003t0003g0074
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.6420+55A>G
c.6420+55A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54660054
chr2:54660091 C
C
 T
T
 12 a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
others(9): Show 
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 12 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(9): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
 intron_variant MODIFIER c.6420+92C>T
c.6420+92C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54660091
chr2:54660150 C
C
 T
T
 4 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
others(1): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0049g0076
a0001c0001t0050g0242
 4 HG00738.hp1
HG02280.hp1
NA20300.hp1
others(1): Show 
HG00738.hp1
HG02280.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.6420+151C>T
c.6420+151C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54660150
chr2:54660533 C
C
 T
T
 4 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(1): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.6420+534C>T
c.6420+534C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54660533
chr2:54660680 G
G
 A
A
 1 a0001c0002t0006g0284
a0001c0002t0006g0284
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.6420+681G>A
c.6420+681G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54660680
chr2:54660938 G
G
 A
A
 116 a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
others(113): Show 
a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0025t0003g0352
a0001c0029t0007g0290
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
 116 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(113): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19079.hp2
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.6420+939G>A
c.6420+939G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54660938
chr2:54661360 C
C
 T
T
 285 a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
others(282): Show 
a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 285 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(282): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6420+1361C>T
c.6420+1361C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54661360
chr2:54661396 T
T
 C
C
 285 a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
others(282): Show 
a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 285 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(282): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6420+1397T>C
c.6420+1397T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54661396
chr2:54661582 A
A
 G
G
 1 a0001c0001t0002g0225
a0001c0001t0002g0225
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.6420+1583A>G
c.6420+1583A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54661582
chr2:54661641 T
T
 C
C
 80 a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0004g0001
others(77): Show 
a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0044g0297
a0001c0003t0004g0024
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 80 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(77): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02080.hp1
HG02145.hp1
HG02559.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
HG06807.hp2
NA18906.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19012.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.6420+1642T>C
c.6420+1642T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54661641
chr2:54661708 G
G
 T
T
 1 a0001c0012t0016g0135
a0001c0012t0016g0135
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.6420+1709G>T
c.6420+1709G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54661708
chr2:54661713 A
A
 G
G
 1 a0001c0013t0015g0255
a0001c0013t0015g0255
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.6420+1714A>G
c.6420+1714A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54661713
chr2:54661735 C
C
 CAT
CAT
 8 a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
others(5): Show 
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
 8 NA18945.hp1
NA18955.hp2
NA18957.hp2
others(5): Show 
NA18945.hp1
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.6420+1745_6420+174
others(6): Show 
c.6420+1745_6420+1746dupAT
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 INFO_REALIGN_3_PRIME chr2 54661735
chr2:54661878 A
A
 G
G
 65 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(62): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0044g0297
a0001c0003t0004g0024
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 65 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(62): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02738.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp1
HG03669.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19012.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.6420+1879A>G
c.6420+1879A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54661878
chr2:54661999 G
G
 A
A
 269 a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
others(266): Show 
a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 269 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(266): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6420+2000G>A
c.6420+2000G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54661999
chr2:54662012 T
T
 C
C
 32 a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
others(29): Show 
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0292
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0006c0027t0003g0075
a0007c0024t0009g0232
 32 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(29): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG02015.hp2
HG02135.hp2
HG02258.hp2
HG02698.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
NA18940.hp1
NA18941.hp2
NA18954.hp2
NA18982.hp1
NA18986.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA20300.hp2
 intron_variant MODIFIER c.6420+2013T>C
c.6420+2013T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662012
chr2:54662144 G
G
 A
A
 1 a0001c0011t0023g0230
a0001c0011t0023g0230
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.6420+2145G>A
c.6420+2145G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662144
chr2:54662253 C
C
 T
T
 286 a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
others(283): Show 
a0001c0001t0002g0301
a0001c0001t0002g0351
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0007g0347
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0044g0297
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 286 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(283): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6421-2200C>T
c.6421-2200C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662253
chr2:54662293 C
C
 T
T
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
 5 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(2): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.6421-2160C>T
c.6421-2160C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662293
chr2:54662395 A
A
 C
C
 1 a0001c0001t0019g0241
a0001c0001t0019g0241
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.6421-2058A>C
c.6421-2058A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662395
chr2:54662678 G
G
 A
A
 1 a0001c0001t0002g0208
a0001c0001t0002g0208
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.6421-1775G>A
c.6421-1775G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662678
chr2:54662764 C
C
 T
T
 37 a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
others(34): Show 
a0001c0001t0005g0221
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0016t0005g0064
a0001c0016t0005g0099
a0008c0030t0030g0174
 37 HG00738.hp1
HG01109.hp2
HG02109.hp2
others(34): Show 
HG00738.hp1
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6421-1689C>T
c.6421-1689C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662764
chr2:54662841 C
C
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.6421-1612C>G
c.6421-1612C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662841
chr2:54662841 C
C
 T
T
 4 a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
others(1): Show 
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 4 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
 intron_variant MODIFIER c.6421-1612C>T
c.6421-1612C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54662841
chr2:54663085 T
T
 C
C
 1 a0001c0002t0001g0204
a0001c0002t0001g0204
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.6421-1368T>C
c.6421-1368T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54663085
chr2:54663147 A
A
 G
G
 3 a0001c0009t0002g0285
a0001c0009t0007g0336
a0001c0009t0045g0298
a0001c0009t0002g0285
a0001c0009t0007g0336
a0001c0009t0045g0298
 3 HG01943.hp1
HG01975.hp1
HG01978.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
 intron_variant MODIFIER c.6421-1306A>G
c.6421-1306A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54663147
chr2:54663286 A
A
 T
T
 1 a0001c0001t0010g0238
a0001c0001t0010g0238
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6421-1167A>T
c.6421-1167A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54663286
chr2:54663716 A
A
 T
T
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.6421-737A>T
c.6421-737A>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54663716
chr2:54663733 C
C
 T
T
 9 a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0035
others(6): Show 
a0001c0001t0002g0018
a0001c0001t0002g0020
a0001c0001t0002g0035
a0001c0001t0005g0206
a0001c0001t0005g0343
a0001c0001t0005g0346
a0001c0001t0007g0019
a0001c0001t0007g0347
a0001c0020t0002g0034
 9 HG02027.hp1
HG02027.hp2
HG02040.hp2
others(6): Show 
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02165.hp2
NA18959.hp1
NA18990.hp1
NA18994.hp1
NA18998.hp2
NA19074.hp1
 intron_variant MODIFIER c.6421-720C>T
c.6421-720C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54663733
chr2:54663765 C
C
 G
G
 1 a0001c0002t0001g0080
a0001c0002t0001g0080
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.6421-688C>G
c.6421-688C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54663765
chr2:54663880 G
G
 A
A
 62 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(59): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0044g0297
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 62 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(59): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18992.hp1
NA18994.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19084.hp2
NA19086.hp2
NA19090.hp2
NA20300.hp2
 intron_variant MODIFIER c.6421-573G>A
c.6421-573G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54663880
chr2:54663989 C
C
 T
T
 44 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0003g0004
others(41): Show 
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
 44 HG01109.hp2
HG01346.hp2
HG02055.hp1
others(41): Show 
HG01109.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.6421-464C>T
c.6421-464C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54663989
chr2:54664013 A
A
 G
G
 1 a0001c0001t0019g0031
a0001c0001t0019g0031
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.6421-440A>G
c.6421-440A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54664013
chr2:54664015 C
C
 T
T
 1 a0001c0005t0012g0369
a0001c0005t0012g0369
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.6421-438C>T
c.6421-438C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54664015
chr2:54664225 T
T
 C
C
 1 a0001c0002t0001g0275
a0001c0002t0001g0275
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.6421-228T>C
c.6421-228T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54664225
chr2:54664262 G
G
 A
A
 4 a0001c0001t0004g0070
a0001c0004t0004g0131
a0001c0004t0004g0166
others(1): Show 
a0001c0001t0004g0070
a0001c0004t0004g0131
a0001c0004t0004g0166
a0001c0004t0004g0170
 4 HG00323.hp1
HG00741.hp2
HG01496.hp2
others(1): Show 
HG00323.hp1
HG00741.hp2
HG01496.hp2
HG02602.hp2
 intron_variant MODIFIER c.6421-191G>A
c.6421-191G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 32/35 chr2 54664262
chr2:54664754 C
C
 A
A
 14 a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0009t0002g0285
others(11): Show 
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0029t0007g0290
 14 HG01106.hp2
HG01167.hp1
HG01169.hp2
others(11): Show 
HG01106.hp2
HG01167.hp1
HG01169.hp2
HG01433.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG02559.hp2
HG02976.hp2
HG03491.hp1
HG03492.hp2
HG06807.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.6659+63C>A
c.6659+63C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54664754
chr2:54664787 T
T
 A
A
 1 a0001c0002t0006g0089
a0001c0002t0006g0089
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.6659+96T>A
c.6659+96T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54664787
chr2:54664907 A
A
 G
G
 1 a0001c0001t0002g0095
a0001c0001t0002g0095
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.6659+216A>G
c.6659+216A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54664907
chr2:54665002 A
A
 G
G
 1 a0001c0005t0034g0003
a0001c0005t0034g0003
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.6659+311A>G
c.6659+311A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665002
chr2:54665094 G
G
 C
C
 1 a0001c0001t0002g0095
a0001c0001t0002g0095
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.6659+403G>C
c.6659+403G>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665094
chr2:54665138 C
C
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.6659+447C>G
c.6659+447C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665138
chr2:54665363 G
G
 A
A
 1 a0001c0004t0004g0205
a0001c0004t0004g0205
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.6660-552G>A
c.6660-552G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665363
chr2:54665369 C
C
 G
G
 68 a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
others(65): Show 
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0044g0297
a0001c0003t0004g0024
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0005t0011g0051
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0003c0031t0004g0063
a0004c0032t0004g0329
 68 HG00323.hp1
HG00438.hp2
HG00609.hp1
others(65): Show 
HG00323.hp1
HG00438.hp2
HG00609.hp1
HG00741.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02257.hp2
HG02451.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp2
HG03669.hp2
HG04184.hp1
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18957.hp1
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA18992.hp1
NA18993.hp1
NA19000.hp2
NA19001.hp2
NA19005.hp2
NA19012.hp2
NA19030.hp2
NA19055.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.6660-546C>G
c.6660-546C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665369
chr2:54665390 G
G
 T
T
 9 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(6): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 9 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(6): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.6660-525G>T
c.6660-525G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665390
chr2:54665467 G
G
 A
A
 9 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(6): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 9 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(6): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.6660-448G>A
c.6660-448G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665467
chr2:54665513 G
G
 A
A
 1 a0001c0029t0007g0290
a0001c0029t0007g0290
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6660-402G>A
c.6660-402G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665513
chr2:54665526 C
C
 A
A
 58 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(55): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0025t0003g0352
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0006c0027t0003g0075
a0007c0024t0009g0232
 58 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(55): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00609.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02109.hp1
HG02135.hp2
HG02258.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp2
HG02738.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03831.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18940.hp1
NA18941.hp2
NA18945.hp1
NA18954.hp2
NA18955.hp2
NA18957.hp2
NA18974.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp1
NA18994.hp2
NA19005.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp2
NA19067.hp1
NA19086.hp2
NA19090.hp2
NA20300.hp2
 intron_variant MODIFIER c.6660-389C>A
c.6660-389C>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665526
chr2:54665592 C
C
 T
T
 8 a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
others(5): Show 
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0004g0101
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0284
a0001c0026t0006g0102
 8 HG00438.hp1
HG02071.hp1
HG02135.hp1
others(5): Show 
HG00438.hp1
HG02071.hp1
HG02135.hp1
HG02155.hp1
NA18612.hp1
NA18951.hp1
NA18986.hp2
NA19010.hp2
 intron_variant MODIFIER c.6660-323C>T
c.6660-323C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665592
chr2:54665663 G
G
 A
A
 263 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(260): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0008g0041
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0011g0038
a0001c0005t0011g0051
a0001c0005t0011g0253
a0001c0005t0011g0254
a0001c0005t0012g0369
a0001c0005t0012g0370
a0001c0005t0021g0040
a0001c0005t0021g0052
a0001c0005t0025g0240
a0001c0005t0025g0250
a0001c0005t0031g0187
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0008t0005g0045
a0001c0008t0005g0046
a0001c0008t0005g0243
a0001c0008t0005g0244
a0001c0008t0005g0245
a0001c0008t0005g0260
a0001c0008t0005g0306
a0001c0008t0026g0364
a0001c0008t0026g0365
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0013t0015g0255
a0001c0013t0015g0258
a0001c0013t0015g0259
a0001c0013t0015g0263
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0019t0012g0246
a0001c0019t0012g0252
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 263 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(260): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6660-252G>A
c.6660-252G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665663
chr2:54665668 G
G
 A
A
 216 a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
others(213): Show 
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0070
a0001c0001t0005g0221
a0001c0001t0010g0238
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0010c0034t0001g0002
 216 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(213): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.6660-247G>A
c.6660-247G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665668
chr2:54665752 T
T
 C
C
 1 a0001c0021t0001g0197
a0001c0021t0001g0197
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.6660-163T>C
c.6660-163T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665752
chr2:54665900 T
T
 G
G
 2 a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0012t0016g0153
a0001c0012t0016g0189
 2 HG02809.hp2
HG02895.hp2
HG02809.hp2
HG02895.hp2
 intron_variant MODIFIER c.6660-15T>G
c.6660-15T>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 33/35 chr2 54665900
chr2:54666100 C
C
 T
T
 85 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
others(82): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0029g0100
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0021t0001g0197
a0001c0026t0006g0102
a0005c0028t0001g0006
a0010c0034t0001g0002
 85 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp1
HG00558.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01081.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG03491.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG04115.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp2
NA18951.hp1
NA18956.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18977.hp1
NA18978.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp1
NA18989.hp2
NA18992.hp2
NA18993.hp2
NA18998.hp1
NA19001.hp1
NA19002.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19074.hp2
NA19076.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.6833+12C>T
c.6833+12C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666100
chr2:54666244 G
G
 A
A
 1 a0001c0005t0012g0369
a0001c0005t0012g0369
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.6833+156G>A
c.6833+156G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666244
chr2:54666313 A
A
 G
G
 1 a0004c0032t0004g0329
a0004c0032t0004g0329
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.6833+225A>G
c.6833+225A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666313
chr2:54666407 C
C
 G
G
 3 a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0001t0005g0221
a0001c0016t0005g0064
a0001c0016t0005g0099
 3 HG03654.hp1
HG03942.hp2
HG04204.hp2
HG03654.hp1
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.6833+319C>G
c.6833+319C>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666407
chr2:54666581 A
A
 G
G
 1 a0001c0002t0001g0231
a0001c0002t0001g0231
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.6833+493A>G
c.6833+493A>G
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666581
chr2:54666812 T
T
 C
C
 1 a0001c0001t0049g0076
a0001c0001t0049g0076
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.6833+724T>C
c.6833+724T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666812
chr2:54666852 G
G
 T
T
 1 a0001c0009t0007g0272
a0001c0009t0007g0272
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.6834-752G>T
c.6834-752G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666852
chr2:54666860 T
T
 A
A
 4 a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
others(1): Show 
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
 4 HG02809.hp2
HG02895.hp2
HG03225.hp1
others(1): Show 
HG02809.hp2
HG02895.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.6834-744T>A
c.6834-744T>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666860
chr2:54666880 G
G
 T
T
 1 a0002c0006t0003g0184
a0002c0006t0003g0184
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.6834-724G>T
c.6834-724G>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666880
chr2:54666906 T
T
 C
C
 246 a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0095
others(243): Show 
a0001c0001t0001g0087
a0001c0001t0001g0156
a0001c0001t0002g0095
a0001c0001t0003g0059
a0001c0001t0003g0060
a0001c0001t0003g0061
a0001c0001t0003g0223
a0001c0001t0004g0001
a0001c0001t0004g0070
a0001c0001t0004g0091
a0001c0001t0004g0092
a0001c0001t0004g0093
a0001c0001t0004g0125
a0001c0001t0004g0129
a0001c0001t0004g0130
a0001c0001t0004g0142
a0001c0001t0004g0143
a0001c0001t0004g0144
a0001c0001t0004g0145
a0001c0001t0004g0213
a0001c0001t0005g0221
a0001c0001t0007g0196
a0001c0001t0007g0270
a0001c0001t0007g0296
a0001c0001t0010g0238
a0001c0001t0014g0104
a0001c0001t0014g0105
a0001c0001t0014g0282
a0001c0001t0018g0127
a0001c0001t0022g0164
a0001c0001t0029g0100
a0001c0001t0044g0297
a0001c0002t0001g0009
a0001c0002t0001g0010
a0001c0002t0001g0028
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0067
a0001c0002t0001g0077
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0083
a0001c0002t0001g0086
a0001c0002t0001g0103
a0001c0002t0001g0111
a0001c0002t0001g0115
a0001c0002t0001g0117
a0001c0002t0001g0121
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0146
a0001c0002t0001g0147
a0001c0002t0001g0186
a0001c0002t0001g0204
a0001c0002t0001g0231
a0001c0002t0001g0273
a0001c0002t0001g0274
a0001c0002t0001g0275
a0001c0002t0001g0287
a0001c0002t0001g0307
a0001c0002t0001g0308
a0001c0002t0001g0310
a0001c0002t0001g0312
a0001c0002t0001g0324
a0001c0002t0001g0325
a0001c0002t0001g0326
a0001c0002t0001g0330
a0001c0002t0001g0331
a0001c0002t0001g0333
a0001c0002t0001g0334
a0001c0002t0001g0335
a0001c0002t0001g0337
a0001c0002t0001g0359
a0001c0002t0004g0101
a0001c0002t0005g0122
a0001c0002t0006g0089
a0001c0002t0006g0114
a0001c0002t0006g0116
a0001c0002t0006g0148
a0001c0002t0006g0149
a0001c0002t0006g0154
a0001c0002t0006g0155
a0001c0002t0006g0157
a0001c0002t0006g0158
a0001c0002t0006g0159
a0001c0002t0006g0160
a0001c0002t0006g0271
a0001c0002t0006g0276
a0001c0002t0006g0278
a0001c0002t0006g0281
a0001c0002t0006g0284
a0001c0002t0006g0299
a0001c0002t0006g0313
a0001c0002t0006g0314
a0001c0002t0006g0323
a0001c0002t0006g0327
a0001c0002t0006g0328
a0001c0002t0028g0294
a0001c0002t0028g0295
a0001c0002t0029g0339
a0001c0002t0046g0332
a0001c0002t0047g0279
a0001c0002t0048g0025
a0001c0003t0003g0008
a0001c0003t0003g0036
a0001c0003t0003g0037
a0001c0003t0003g0073
a0001c0003t0003g0074
a0001c0003t0003g0113
a0001c0003t0003g0138
a0001c0003t0003g0139
a0001c0003t0003g0177
a0001c0003t0003g0251
a0001c0003t0003g0256
a0001c0003t0003g0257
a0001c0003t0003g0261
a0001c0003t0003g0262
a0001c0003t0003g0292
a0001c0003t0003g0304
a0001c0003t0003g0305
a0001c0003t0003g0319
a0001c0003t0003g0320
a0001c0003t0003g0355
a0001c0003t0003g0356
a0001c0003t0003g0357
a0001c0003t0003g0360
a0001c0003t0003g0366
a0001c0003t0004g0024
a0001c0003t0009g0227
a0001c0003t0009g0233
a0001c0003t0009g0234
a0001c0003t0009g0235
a0001c0003t0009g0236
a0001c0003t0009g0237
a0001c0003t0024g0362
a0001c0003t0024g0363
a0001c0003t0027g0053
a0001c0003t0027g0054
a0001c0003t0032g0321
a0001c0003t0033g0172
a0001c0003t0036g0361
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0047
a0001c0005t0003g0181
a0001c0005t0003g0182
a0001c0005t0003g0190
a0001c0005t0003g0191
a0001c0005t0034g0003
a0001c0005t0043g0039
a0001c0007t0001g0081
a0001c0007t0001g0119
a0001c0007t0001g0192
a0001c0007t0001g0222
a0001c0007t0001g0302
a0001c0007t0001g0311
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0009t0002g0285
a0001c0009t0007g0272
a0001c0009t0007g0280
a0001c0009t0007g0286
a0001c0009t0007g0288
a0001c0009t0007g0289
a0001c0009t0007g0336
a0001c0009t0010g0088
a0001c0009t0045g0298
a0001c0011t0003g0171
a0001c0011t0003g0228
a0001c0011t0003g0268
a0001c0011t0023g0229
a0001c0011t0023g0230
a0001c0012t0016g0026
a0001c0012t0016g0135
a0001c0012t0016g0153
a0001c0012t0016g0189
a0001c0014t0001g0013
a0001c0014t0001g0029
a0001c0014t0037g0011
a0001c0016t0005g0064
a0001c0016t0005g0099
a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0021t0001g0197
a0001c0025t0003g0352
a0001c0026t0006g0102
a0001c0029t0007g0290
a0001c0033t0007g0248
a0002c0006t0003g0014
a0002c0006t0003g0016
a0002c0006t0003g0141
a0002c0006t0003g0151
a0002c0006t0003g0152
a0002c0006t0003g0178
a0002c0006t0003g0179
a0002c0006t0003g0184
a0002c0006t0003g0185
a0002c0006t0003g0188
a0002c0006t0003g0200
a0003c0031t0004g0063
a0004c0032t0004g0329
a0005c0028t0001g0006
a0006c0027t0003g0075
a0007c0024t0009g0232
a0008c0030t0030g0174
a0010c0034t0001g0002
 246 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(243): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18998.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.6834-698T>C
c.6834-698T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54666906
chr2:54667109 C
C
 T
T
 5 a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
others(2): Show 
a0001c0001t0019g0031
a0001c0001t0019g0183
a0001c0001t0019g0241
a0001c0001t0049g0076
a0001c0001t0050g0242
 5 HG00738.hp1
HG02280.hp1
HG02280.hp2
others(2): Show 
HG00738.hp1
HG02280.hp1
HG02280.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.6834-495C>T
c.6834-495C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54667109
chr2:54667117 T
T
 C
C
 1 a0001c0002t0001g0133
a0001c0002t0001g0133
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.6834-487T>C
c.6834-487T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54667117
chr2:54667481 G
G
 A
A
 2 a0001c0018t0007g0112
a0001c0018t0042g0027
a0001c0018t0007g0112
a0001c0018t0042g0027
 2 HG02559.hp2
HG02976.hp2
HG02559.hp2
HG02976.hp2
 intron_variant MODIFIER c.6834-123G>A
c.6834-123G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54667481
chr2:54667512 G
G
 A
A
 49 a0001c0001t0004g0070
a0001c0001t0010g0238
a0001c0003t0004g0024
others(46): Show 
a0001c0001t0004g0070
a0001c0001t0010g0238
a0001c0003t0004g0024
a0001c0004t0002g0161
a0001c0004t0004g0068
a0001c0004t0004g0069
a0001c0004t0004g0071
a0001c0004t0004g0072
a0001c0004t0004g0096
a0001c0004t0004g0098
a0001c0004t0004g0107
a0001c0004t0004g0131
a0001c0004t0004g0132
a0001c0004t0004g0134
a0001c0004t0004g0166
a0001c0004t0004g0170
a0001c0004t0004g0193
a0001c0004t0004g0194
a0001c0004t0004g0195
a0001c0004t0004g0201
a0001c0004t0004g0202
a0001c0004t0004g0205
a0001c0004t0004g0209
a0001c0004t0004g0218
a0001c0004t0004g0264
a0001c0004t0004g0265
a0001c0004t0004g0266
a0001c0004t0004g0267
a0001c0004t0004g0277
a0001c0004t0004g0317
a0001c0004t0004g0318
a0001c0004t0004g0358
a0001c0004t0007g0055
a0001c0004t0007g0057
a0001c0004t0007g0110
a0001c0004t0007g0173
a0001c0004t0010g0109
a0001c0004t0010g0175
a0001c0004t0010g0315
a0001c0004t0010g0348
a0001c0004t0035g0042
a0001c0005t0043g0039
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
a0001c0033t0007g0248
a0003c0031t0004g0063
a0004c0032t0004g0329
 49 HG00323.hp1
HG00741.hp2
HG01071.hp2
others(46): Show 
HG00323.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp1
NA18957.hp1
NA18987.hp2
NA18990.hp2
NA18993.hp1
NA19000.hp2
NA19005.hp2
NA19055.hp1
NA19064.hp2
NA19082.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.6834-92G>A
c.6834-92G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54667512
chr2:54667564 G
G
 A
A
 1 a0001c0002t0046g0332
a0001c0002t0046g0332
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.6834-40G>A
c.6834-40G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54667564
chr2:54667575 G
G
 A
A
 1 a0001c0001t0014g0282
a0001c0001t0014g0282
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.6834-29G>A
c.6834-29G>A
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 34/35 chr2 54667575
chr2:54667765 T
T
 C
C
 2 a0001c0005t0003g0004
a0001c0005t0003g0005
a0001c0005t0003g0004
a0001c0005t0003g0005
 2 HG03516.hp1
NA21309.hp2
HG03516.hp1
NA21309.hp2
 intron_variant MODIFIER c.6876+119T>C
c.6876+119T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 35/35 chr2 54667765
chr2:54668037 C
C
 T
T
 2 a0001c0001t0018g0180
a0001c0001t0018g0303
a0001c0001t0018g0180
a0001c0001t0018g0303
 2 HG02055.hp2
HG02818.hp1
HG02055.hp2
HG02818.hp1
 intron_variant MODIFIER c.6877-314C>T
c.6877-314C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 35/35 chr2 54668037
chr2:54668096 T
T
 C
C
 9 a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
others(6): Show 
a0001c0005t0008g0048
a0001c0005t0008g0049
a0001c0005t0008g0050
a0001c0005t0008g0056
a0001c0005t0008g0062
a0001c0005t0008g0176
a0001c0005t0008g0269
a0001c0005t0008g0368
a0001c0005t0031g0187
 9 HG02109.hp2
HG02572.hp2
HG02886.hp2
others(6): Show 
HG02109.hp2
HG02572.hp2
HG02886.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.6877-255T>C
c.6877-255T>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 35/35 chr2 54668096
chr2:54668182 C
C
 T
T
 1 a0001c0004t0004g0134
a0001c0004t0004g0134
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.6877-169C>T
c.6877-169C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 35/35 chr2 54668182
chr2:54668218 A
A
 C
C
 5 a0001c0003t0003g0113
a0001c0007t0013g0043
a0001c0007t0013g0044
others(2): Show 
a0001c0003t0003g0113
a0001c0007t0013g0043
a0001c0007t0013g0044
a0001c0007t0013g0108
a0001c0007t0013g0137
 5 HG02145.hp2
HG03139.hp1
HG03139.hp2
others(2): Show 
HG02145.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03579.hp2
 intron_variant MODIFIER c.6877-133A>C
c.6877-133A>C
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 35/35 chr2 54668218
chr2:54668253 C
C
 T
T
 1 a0001c0001t0005g0203
a0001c0001t0005g0203
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.6877-98C>T
c.6877-98C>T
SPTBN1 ENSG00000115306.17 transcript ENST00000356805.9 protein_coding 35/35 chr2 54668253

  • 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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