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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   STXBP4_chr17_54963765_55178632  STXBP4_chr17_54963765_55178632 (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 252983
ensemblid ENSG00000166263.13
hgncid 19694
symbol STXBP4
name syntaxin binding protein 4
refseq_nuc NM_178509.6
refseq_prot NP_848604.3
ensembl_nuc ENST00000376352.6
ensembl_prot ENSP00000365530.2
mane_status MANE Select
chr chr17
start 54968765
end 55173632
strand +
ver v1.2
region chr17:54968765-55173632
region5000 chr17:54963765-55178632
regionname0 STXBP4_chr17_54968765_55173632
regionname5000 STXBP4_chr17_54963765_55178632

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/1 553 312 63 48 161 4 35 136 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002 1/0 553 37 5 15 11 2 3 5 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003 0/0 553 22 20 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0004 0/0 553 2 2 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0005 0/0 553 1 0 0 1 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0006 0/0 553 1 0 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0007 0/0 553 1 0 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0008 0/0 553 1 1 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0009 0/0 553 1 1 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 1662 233 54 34 119 1 24 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0002 0/0 1662 74 6 14 40 3 11 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0003 1/0 1662 37 5 15 11 2 3 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0004 0/0 1662 20 18 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0005 0/0 1662 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0006 0/0 1662 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0007 0/0 1662 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0008 0/0 1662 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0009 0/0 1662 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0010 0/0 1662 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0011 0/0 1662 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0012 0/0 1662 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0013 0/0 1662 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0014 0/0 1662 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
c0015 0/0 1662 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 13929 54 2 12 34 0 5 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0002 0/0 13929 33 2 0 29 0 2 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0003 0/0 13936 22 0 7 12 0 3 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0004 0/0 13917 21 0 0 20 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0005 0/0 13929 21 3 11 0 2 5 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0006 0/0 13937 14 2 6 5 1 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0007 0/0 13930 14 1 0 9 0 4 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0008 0/0 13935 12 5 0 7 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0009 0/0 13928 7 7 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0010 0/0 13937 5 0 2 1 0 2 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0011 0/0 13938 5 2 1 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0012 0/0 13933 5 5 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0013 0/0 13929 5 5 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0014 0/0 13936 4 0 0 4 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0015 0/0 13935 4 4 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0016 0/0 13936 4 0 4 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0017 0/0 13938 4 0 0 4 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0018 0/0 13933 4 0 1 3 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0019 0/0 13931 3 3 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0020 0/0 13929 3 3 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0021 0/0 13933 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0022 0/0 13934 2 1 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0023 0/0 13936 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0024 0/0 13935 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0025 0/0 13936 2 0 0 0 0 2 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0026 0/0 13936 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0027 0/0 13917 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0028 0/0 13934 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0029 0/0 13933 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0030 0/0 13938 2 0 1 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0031 0/0 13932 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0032 0/0 13933 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0033 0/0 13935 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0034 0/0 13931 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0035 0/0 13930 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0036 0/0 13929 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0037 0/0 13930 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0038 0/0 13930 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0039 0/0 13927 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0040 0/0 13935 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0041 0/0 13936 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0042 0/0 13936 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0043 0/0 13936 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0044 0/0 13934 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0045 0/0 13934 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0046 0/0 13935 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0047 0/0 13935 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0048 0/0 13935 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0049 0/0 13931 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0050 0/0 13936 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0051 0/0 13936 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0052 0/0 13936 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0053 0/0 13936 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0054 0/0 13937 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0055 0/0 13937 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0056 0/0 13937 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0057 0/0 13935 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0058 0/0 13929 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0059 0/0 13934 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0060 0/0 13917 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0061 0/0 13917 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0062 0/0 13917 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0063 0/0 13928 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0064 0/0 13938 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0065 0/0 13933 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0066 0/0 13932 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0067 0/0 13936 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0068 0/0 13937 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0069 0/0 13932 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0070 0/0 13934 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0071 0/0 13933 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0072 0/0 13933 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0073 0/0 13933 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0074 0/0 13934 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0075 0/0 13934 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0076 0/0 13936 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0077 0/0 13933 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0078 0/0 13936 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0079 0/0 13938 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0080 0/0 13928 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0081 0/0 13928 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0082 0/0 13937 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0083 0/0 13937 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0084 0/0 13935 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0085 0/0 13935 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0086 0/0 13937 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0087 0/0 13938 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0088 0/0 13939 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0089 0/0 13939 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0090 0/0 13928 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0091 0/0 13933 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0092 0/0 13935 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0093 0/0 13933 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0094 0/0 13936 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0095 0/0 13934 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0096 0/0 13932 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0097 0/0 13935 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0098 0/0 13929 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0099 0/0 13930 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0100 0/0 13930 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0101 0/0 13931 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0102 0/0 13929 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0103 0/0 13928 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0104 0/0 13929 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0105 0/0 13929 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0106 0/0 13929 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0107 0/0 13929 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0108 0/0 13929 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0109 0/0 13929 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0110 0/0 13929 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0111 0/0 13929 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0112 0/0 13931 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0113 0/0 13931 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0114 0/0 13929 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0115 0/0 13929 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0116 0/0 13927 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0117 0/0 13929 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0118 1/0 13929 1 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0119 0/0 13929 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0120 0/0 13929 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0121 0/0 13929 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0122 0/0 13930 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0123 0/0 13930 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0124 0/0 13931 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0125 0/0 13930 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0126 0/0 13930 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0127 0/0 13930 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0128 0/0 13931 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0129 0/0 13933 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0130 0/0 13928 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0131 0/0 13929 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0132 0/0 13929 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0133 0/0 13929 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
t0134 0/0 13930 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0002 0/0 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0003 0/0 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0004 0/0 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0005 0/0 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0006 0/0 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0007 0/0 2 0 0 0 0 2 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0008 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0009 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0010 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0011 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0012 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0013 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0014 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0015 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0016 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0017 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0018 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0019 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0020 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0021 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0022 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0023 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0024 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0025 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0026 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0027 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0028 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0029 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0030 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0031 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0032 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0033 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0034 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0035 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0036 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0037 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0038 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0039 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0040 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0041 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0042 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0043 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0044 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0045 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0046 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0047 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0048 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0049 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0050 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0051 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0052 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0053 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0054 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0055 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0056 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0057 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0058 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0059 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0060 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0061 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0062 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0063 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0064 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0065 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0066 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0067 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0068 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0069 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0070 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0071 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0072 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0073 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0074 1/0 1 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0075 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0076 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0077 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0078 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0079 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0080 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0081 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0082 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0083 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0084 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0085 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0086 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0087 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0088 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0089 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0090 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0091 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0092 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0093 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0094 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0095 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0096 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0097 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0098 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0099 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0100 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0101 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0102 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0103 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0104 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0105 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0106 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0107 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0108 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0109 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0110 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0111 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0112 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0113 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0114 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0115 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0116 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0117 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0118 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0119 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0120 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0121 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0122 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0123 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0124 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0125 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0126 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0127 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0128 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0129 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0130 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0131 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0132 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0133 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0134 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0135 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0136 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0137 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0138 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0139 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0140 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0141 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0142 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0143 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0144 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0145 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0146 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0147 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0148 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0149 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0150 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0151 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0152 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0153 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0154 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0155 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0156 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0157 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0158 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0159 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0160 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0161 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0162 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0163 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0164 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0165 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0166 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0167 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0168 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0169 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0170 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0171 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0172 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0173 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0174 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0175 0/1 1 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0176 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0177 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0178 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0179 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0180 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0181 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0182 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0183 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0184 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0185 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0186 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0187 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0188 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0189 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0190 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0191 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0192 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0193 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0194 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0195 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0196 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0197 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0198 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0199 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0200 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0201 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0202 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0203 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0204 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0205 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0206 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0207 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0208 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0209 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0210 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0211 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0212 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0213 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0214 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0215 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0216 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0217 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0218 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0219 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0220 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0221 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0222 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0223 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0224 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0225 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0226 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0227 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0228 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0229 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0230 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0231 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0232 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0233 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0234 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0235 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0236 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0237 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0238 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0239 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0240 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0241 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0242 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0243 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0244 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0245 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0246 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0247 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0248 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0249 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0250 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0251 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0252 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0253 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0254 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0255 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0256 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0257 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0258 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0259 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0260 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0261 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0262 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0263 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0264 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0265 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0266 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0267 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0268 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0269 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0270 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0271 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0272 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0273 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0274 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0275 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0276 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0277 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0278 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0279 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0280 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0281 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0282 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0283 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0284 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0285 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0286 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0287 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0288 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0289 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0290 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0291 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0292 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0293 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0294 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0295 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0296 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0297 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0298 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0299 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0300 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0301 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0302 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0303 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0304 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0305 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0306 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0307 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0308 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0309 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0310 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0311 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0312 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0313 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0314 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0315 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0316 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0317 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0318 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0319 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0320 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0321 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0322 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0323 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0324 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0325 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0326 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0327 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0328 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0329 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0330 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0331 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0332 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0333 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0334 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0335 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0336 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0337 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0338 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0339 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0340 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0341 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0342 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0343 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0344 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0345 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0346 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0347 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0348 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0349 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0350 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0351 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0352 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0353 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0354 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0355 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0356 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0357 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0358 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0359 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0360 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0361 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0362 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0363 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0364 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0365 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0366 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0367 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0368 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0369 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0370 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
g0371 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/1 1662 233 54 34 119 1 24 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002 0/0 1662 74 6 14 40 3 11 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0005 0/0 1662 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0009 0/0 1662 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0011 0/0 1662 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0012 0/0 1662 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003 1/0 1662 37 5 15 11 2 3 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004 0/0 1662 20 18 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0006 0/0 1662 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0004c0007 0/0 1662 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0005c0015 0/0 1662 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0006c0013 0/0 1662 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0007c0010 0/0 1662 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0008c0014 0/0 1662 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0009c0008 0/0 1662 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/1 15590 50 2 12 30 0 5 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0002 0/0 15590 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0003 0/0 15597 18 0 5 10 0 3 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0004 0/0 15578 17 0 0 17 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0005 0/0 15590 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0006 0/0 15598 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0007 0/0 15591 14 1 0 9 0 4 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0008 0/0 15596 11 5 0 6 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0009 0/0 15589 7 7 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0010 0/0 15598 5 0 2 1 0 2 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0012 0/0 15594 5 5 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0014 0/0 15597 4 0 0 4 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0017 0/0 15599 4 0 0 4 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0018 0/0 15594 4 0 1 3 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0019 0/0 15592 3 3 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0022 0/0 15595 2 1 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0023 0/0 15597 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0024 0/0 15596 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0025 0/0 15597 2 0 0 0 0 2 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0026 0/0 15597 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0027 0/0 15578 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0029 0/0 15594 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0031 0/0 15593 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0032 0/0 15594 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0033 0/0 15596 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0034 0/0 15592 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0035 0/0 15591 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0036 0/0 15590 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0040 0/0 15596 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0041 0/0 15597 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0042 0/0 15597 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0043 0/0 15597 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0044 0/0 15595 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0045 0/0 15595 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0046 0/0 15596 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0047 0/0 15596 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0048 0/0 15596 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0049 0/0 15592 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0050 0/0 15597 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0052 0/0 15597 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0053 0/0 15597 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0055 0/0 15598 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0056 0/0 15598 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0057 0/0 15596 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0058 0/0 15590 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0060 0/0 15578 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0061 0/0 15578 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0062 0/0 15578 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0063 0/0 15589 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0064 0/0 15599 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0067 0/0 15597 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0068 0/0 15598 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0069 0/0 15593 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0071 0/0 15594 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0072 0/0 15594 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0073 0/0 15594 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0074 0/0 15595 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0075 0/0 15595 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0078 0/0 15597 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0080 0/0 15589 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0081 0/0 15589 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0082 0/0 15598 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0087 0/0 15599 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0090 0/0 15589 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0091 0/0 15594 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0093 0/0 15594 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0095 0/0 15595 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0096 0/0 15593 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0097 0/0 15596 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0098 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0099 0/0 15591 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0101 0/0 15592 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0103 0/0 15589 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0106 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0114 0/0 15590 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0115 0/0 15590 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0116 0/0 15588 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0117 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0119 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0120 0/0 15590 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0121 0/0 15590 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0122 0/0 15591 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0123 0/0 15591 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0124 0/0 15592 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0127 0/0 15591 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0129 0/0 15594 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0130 0/0 15589 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0132 0/0 15590 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0001t0134 0/0 15591 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0001 0/0 15590 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0002 0/0 15590 31 2 0 27 0 2 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0003 0/0 15597 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0004 0/0 15578 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0005 0/0 15590 18 1 10 0 2 5 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0008 0/0 15596 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0024 0/0 15596 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0037 0/0 15591 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0038 0/0 15591 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0039 0/0 15588 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0102 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0104 0/0 15590 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0105 0/0 15590 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0107 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0108 0/0 15590 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0109 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0110 0/0 15590 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0111 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0112 0/0 15592 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0113 0/0 15592 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0125 0/0 15591 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0126 0/0 15591 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0002t0128 0/0 15592 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0005t0005 0/0 15590 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0009t0003 0/0 15597 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0011t0001 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0001c0012t0100 0/0 15591 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0003 0/0 15597 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0004 0/0 15578 3 0 0 3 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0006 0/0 15598 12 2 6 3 1 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0011 0/0 15599 4 2 1 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0016 0/0 15597 4 0 4 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0030 0/0 15599 2 0 1 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0051 0/0 15597 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0054 0/0 15598 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0065 0/0 15594 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0079 0/0 15599 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0083 0/0 15598 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0084 0/0 15596 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0085 0/0 15596 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0086 0/0 15598 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0088 0/0 15600 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0089 0/0 15600 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0002c0003t0118 1/0 15590 1 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0013 0/0 15590 5 5 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0015 0/0 15596 4 4 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0020 0/0 15590 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0021 0/0 15594 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0028 0/0 15595 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0031 0/0 15593 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0059 0/0 15595 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0066 0/0 15593 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0070 0/0 15595 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0076 0/0 15597 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0077 0/0 15594 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0004t0131 0/0 15590 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0006t0092 0/0 15596 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0003c0006t0094 0/0 15597 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0004c0007t0020 0/0 15590 2 2 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0005c0015t0011 0/0 15599 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0006c0013t0001 0/0 15590 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0007c0010t0003 0/0 15597 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0008c0014t0133 0/0 15590 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632
a0009c0008t0021 0/0 15594 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 copy fasta chr17 54963765 55178632

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0006 0/0 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0080 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0082 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0084 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0155 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0159 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0160 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0163 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0165 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0169 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0170 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0171 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0172 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0173 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0174 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0175 0/1 1 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0178 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0180 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0183 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0185 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0186 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0187 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0188 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0189 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0191 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0192 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0194 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0197 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0198 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0199 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0200 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0201 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0202 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0204 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0205 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0206 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0207 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0208 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0209 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0210 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0216 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0218 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0219 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0220 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0235 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0001g0243 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0002g0168 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0002g0344 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0211 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0274 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0280 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0283 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0289 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0294 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0301 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0302 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0303 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0304 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0305 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0309 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0316 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0318 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0321 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0326 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0327 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0003g0328 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0236 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0238 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0240 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0241 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0245 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0247 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0248 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0250 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0251 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0252 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0253 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0284 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0285 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0295 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0299 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0300 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0004g0325 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0005g0193 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0006g0296 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0006g0306 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0081 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0083 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0151 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0152 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0162 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0179 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0181 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0195 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0196 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0212 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0213 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0214 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0217 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0007g0348 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0332 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0333 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0338 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0340 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0341 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0347 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0349 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0352 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0353 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0354 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0008g0359 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0009g0017 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0009g0018 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0009g0019 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0009g0020 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0009g0110 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0009g0111 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0009g0112 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0010g0270 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0010g0282 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0010g0314 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0010g0320 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0010g0322 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0012g0149 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0012g0228 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0012g0230 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0012g0231 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0012g0232 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0014g0290 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0014g0291 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0014g0292 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0014g0336 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0017g0288 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0017g0351 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0017g0368 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0017g0369 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0018g0221 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0018g0223 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0018g0224 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0018g0226 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0019g0013 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0019g0014 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0019g0015 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0022g0330 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0022g0358 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0023g0342 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0023g0343 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0024g0307 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0025g0007 0/0 2 0 0 0 0 2 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0026g0311 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0026g0313 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0027g0244 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0027g0249 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0029g0115 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0029g0116 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0031g0269 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0032g0227 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0032g0229 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0033g0356 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0033g0357 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0034g0254 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0034g0256 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0035g0005 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0035g0167 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0036g0153 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0036g0154 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0040g0335 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0040g0345 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0041g0293 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0042g0355 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0043g0308 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0044g0319 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0045g0350 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0046g0281 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0047g0366 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0048g0346 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0049g0310 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0050g0360 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0052g0315 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0053g0324 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0055g0323 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0056g0312 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0057g0317 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0058g0255 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0060g0242 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0061g0239 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0062g0246 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0063g0040 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0064g0016 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0067g0337 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0068g0339 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0069g0272 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0071g0109 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0072g0273 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0073g0259 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0074g0011 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0075g0271 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0078g0234 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0080g0114 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0081g0108 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0082g0334 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0087g0117 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0090g0012 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0091g0225 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0093g0237 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0095g0329 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0096g0062 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0097g0222 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0098g0257 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0099g0021 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0101g0005 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0103g0157 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0106g0176 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0114g0026 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0115g0028 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0116g0287 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0117g0158 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0119g0148 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0120g0184 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0121g0190 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0122g0150 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0123g0029 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0124g0177 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0127g0215 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0129g0161 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0130g0027 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0132g0268 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0001t0134g0233 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0001g0094 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0001g0106 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0001 0/0 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0002 0/0 2 0 0 2 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0030 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0034 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0035 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0036 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0039 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0041 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0043 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0044 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0049 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0050 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0051 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0052 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0053 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0054 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0055 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0058 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0059 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0061 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0063 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0064 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0065 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0066 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0067 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0068 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0070 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0090 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0002g0107 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0003g0069 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0004g0085 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0031 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0075 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0076 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0078 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0088 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0089 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0091 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0093 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0095 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0096 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0098 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0099 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0100 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0101 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0102 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0103 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0104 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0005g0105 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0008g0038 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0024g0071 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0037g0047 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0037g0048 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0038g0073 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0038g0079 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0039g0032 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0039g0037 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0102g0056 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0104g0077 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0105g0092 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0107g0045 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0108g0097 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0109g0060 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0110g0033 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0111g0046 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0112g0086 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0113g0087 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0125g0042 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0126g0072 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0002t0128g0057 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0005t0005g0024 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0005t0005g0025 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0009t0003g0297 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0011t0001g0156 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0001c0012t0100g0275 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0003g0286 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0004g0122 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0004g0123 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0004g0124 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0003 0/0 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0119 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0129 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0134 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0135 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0138 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0139 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0140 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0144 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0145 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0006g0258 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0011g0118 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0011g0120 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0011g0131 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0011g0142 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0016g0004 0/0 2 0 2 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0016g0130 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0016g0147 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0030g0126 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0030g0128 0/0 1 0 0 0 1 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0051g0136 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0054g0141 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0065g0121 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0079g0127 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0083g0132 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0084g0137 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0085g0133 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0086g0146 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0088g0125 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0089g0143 0/0 1 0 0 0 0 1 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0002c0003t0118g0074 1/0 1 0 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0013g0260 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0013g0262 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0013g0263 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0013g0265 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0013g0266 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0015g0278 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0015g0279 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0015g0367 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0015g0370 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0020g0276 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0021g0331 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0028g0361 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0028g0364 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0031g0261 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0059g0365 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0066g0362 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0070g0277 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0076g0371 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0077g0363 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0004t0131g0264 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0006t0092g0113 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0003c0006t0094g0022 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0004c0007t0020g0009 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0004c0007t0020g0010 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0005c0015t0011g0023 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0006c0013t0001g0182 0/0 1 0 0 1 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0007c0010t0003g0298 0/0 1 0 1 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0008c0014t0133g0008 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
a0009c0008t0021g0267 0/0 1 1 0 0 0 0 STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0002 t0126 g0072 EUR GBR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00099 hp2 a0002 c0003 t0006 g0144 EUR GBR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00280 hp1 a0001 c0002 t0005 g0095 EUR FIN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00280 hp2 a0001 c0001 t0055 g0323 EUR FIN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00423 hp1 a0001 c0001 t0001 g0155 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00423 hp2 a0001 c0001 t0003 g0302 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00438 hp1 a0001 c0001 t0001 g0203 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00438 hp2 a0002 c0003 t0054 g0141 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00558 hp1 a0001 c0001 t0001 g0164 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00558 hp2 a0002 c0003 t0084 g0137 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00621 hp1 a0001 c0001 t0003 g0326 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00621 hp2 a0001 c0002 t0002 g0070 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00639 hp1 a0001 c0002 t0112 g0086 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00639 hp2 a0001 c0001 t0001 g0159 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00642 hp1 a0002 c0003 t0003 g0286 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00642 hp2 a0001 c0002 t0005 g0076 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00673 hp1 a0001 c0001 t0062 g0246 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00673 hp2 a0001 c0001 t0034 g0254 EAS CHS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00733 hp1 a0001 c0001 t0026 g0311 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00733 hp2 a0001 c0002 t0005 g0089 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00735 hp1 a0001 c0002 t0038 g0073 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00735 hp2 a0001 c0001 t0116 g0287 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00738 hp1 a0001 c0002 t0005 g0088 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG00738 hp2 a0001 c0001 t0001 g0206 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01070 hp1 a0002 c0003 t0016 g0130 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01070 hp2 a0001 c0001 t0120 g0184 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01071 hp1 a0002 c0003 t0006 g0129 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01071 hp2 a0001 c0001 t0005 g0193 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01074 hp1 a0001 c0002 t0038 g0079 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01074 hp2 a0001 c0001 t0026 g0313 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01081 hp1 a0001 c0001 t0001 g0160 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01081 hp2 a0003 c0004 t0066 g0362 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01106 hp1 a0002 c0003 t0086 g0146 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01106 hp2 a0001 c0002 t0005 g0105 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01109 hp1 a0001 c0001 t0018 g0221 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01109 hp2 a0002 c0003 t0079 g0127 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01168 hp1 a0001 c0002 t0005 g0101 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01168 hp2 a0002 c0003 t0006 g0003 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01169 hp1 a0001 c0002 t0104 g0077 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01169 hp2 a0002 c0003 t0006 g0003 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01175 hp1 a0001 c0001 t0040 g0335 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01175 hp2 a0002 c0003 t0011 g0142 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01243 hp1 a0003 c0004 t0076 g0371 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01243 hp2 a0001 c0001 t0124 g0177 AMR PUR STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01255 hp1 a0002 c0003 t0006 g0139 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01255 hp2 a0001 c0001 t0001 g0210 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01258 hp1 a0001 c0001 t0001 g0080 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01258 hp2 a0001 c0001 t0003 g0211 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01261 hp1 a0001 c0002 t0005 g0103 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01261 hp2 a0001 c0001 t0001 g0169 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01346 hp1 a0001 c0002 t0005 g0099 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01346 hp2 a0001 c0001 t0001 g0174 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01358 hp1 a0002 c0003 t0006 g0134 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01358 hp2 a0001 c0001 t0040 g0345 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01361 hp1 a0001 c0001 t0001 g0209 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01361 hp2 a0001 c0001 t0003 g0316 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01433 hp1 a0001 c0001 t0058 g0255 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01433 hp2 a0001 c0001 t0003 g0280 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01496 hp1 a0001 c0001 t0001 g0082 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01496 hp2 a0001 c0001 t0010 g0282 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01517 hp1 a0001 c0002 t0005 g0075 EUR IBS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01517 hp2 a0002 c0003 t0030 g0128 EUR IBS STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01928 hp1 a0002 c0003 t0016 g0004 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01928 hp2 a0001 c0001 t0056 g0312 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01934 hp1 a0001 c0001 t0001 g0204 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01934 hp2 a0001 c0001 t0003 g0289 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01943 hp1 a0001 c0001 t0001 g0170 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01943 hp2 a0007 c0010 t0003 g0298 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01952 hp1 a0001 c0001 t0052 g0315 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01952 hp2 a0001 c0001 t0001 g0197 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01993 hp1 a0002 c0003 t0016 g0004 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01993 hp2 a0001 c0001 t0003 g0283 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02004 hp1 a0001 c0002 t0005 g0098 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02004 hp2 a0001 c0001 t0049 g0310 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02027 hp1 a0001 c0002 t0102 g0056 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02027 hp2 a0001 c0001 t0004 g0253 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02040 hp1 a0001 c0002 t0002 g0049 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02040 hp2 a0001 c0001 t0103 g0157 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02055 hp1 a0003 c0004 t0013 g0263 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02055 hp2 a0002 c0003 t0088 g0125 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02056 hp1 a0001 c0001 t0001 g0219 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02056 hp2 a0002 c0003 t0006 g0258 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02071 hp1 a0002 c0003 t0006 g0138 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02071 hp2 a0001 c0002 t0109 g0060 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02080 hp1 a0006 c0013 t0001 g0182 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02080 hp2 a0001 c0001 t0004 g0250 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02083 hp1 a0001 c0001 t0004 g0245 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02083 hp2 a0001 c0001 t0117 g0158 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02129 hp1 a0001 c0001 t0001 g0235 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02129 hp2 a0001 c0002 t0111 g0046 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02132 hp1 a0001 c0002 t0107 g0045 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02132 hp2 a0001 c0009 t0003 g0297 EAS KHV STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02145 hp1 a0001 c0001 t0008 g0332 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02145 hp2 a0001 c0001 t0115 g0028 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02148 hp1 a0001 c0001 t0057 g0317 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02148 hp2 a0001 c0002 t0005 g0104 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02155 hp1 a0001 c0001 t0001 g0171 EAS CDX STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02155 hp2 a0002 c0003 t0051 g0136 EAS CDX STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02165 hp1 a0001 c0001 t0008 g0338 EAS CDX STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02165 hp2 a0001 c0002 t0002 g0052 EAS CDX STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02257 hp1 a0003 c0004 t0028 g0364 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02257 hp2 a0001 c0001 t0009 g0019 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02258 hp1 a0001 c0002 t0039 g0037 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02258 hp2 a0002 c0003 t0006 g0145 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02273 hp1 a0001 c0001 t0121 g0190 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02273 hp2 a0002 c0003 t0016 g0147 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02280 hp1 a0001 c0001 t0012 g0228 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02280 hp2 a0001 c0001 t0132 g0268 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02300 hp1 a0001 c0001 t0010 g0314 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02300 hp2 a0002 c0003 t0006 g0140 AMR PEL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02451 hp1 a0001 c0001 t0008 g0352 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02451 hp2 a0001 c0002 t0039 g0032 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02572 hp1 a0001 c0002 t0108 g0097 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02572 hp2 a0001 c0012 t0100 g0275 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02602 hp1 a0001 c0001 t0044 g0319 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02602 hp2 a0001 c0002 t0004 g0085 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02615 hp1 a0004 c0007 t0020 g0009 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02615 hp2 a0001 c0001 t0008 g0354 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02622 hp1 a0003 c0004 t0013 g0266 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02622 hp2 a0001 c0001 t0134 g0233 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02630 hp1 a0001 c0001 t0095 g0329 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02630 hp2 a0009 c0008 t0021 g0267 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02647 hp1 a0001 c0001 t0063 g0040 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02647 hp2 a0001 c0001 t0032 g0229 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02683 hp1 a0001 c0001 t0010 g0270 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02683 hp2 a0001 c0002 t0005 g0093 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02698 hp1 a0001 c0001 t0003 g0321 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02698 hp2 a0001 c0002 t0005 g0100 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02717 hp1 a0001 c0001 t0009 g0017 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02717 hp2 a0001 c0001 t0130 g0027 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02723 hp1 a0003 c0004 t0059 g0365 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02723 hp2 a0001 c0001 t0009 g0112 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02735 hp1 a0001 c0001 t0003 g0305 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02735 hp2 a0001 c0002 t0110 g0033 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02738 hp1 a0001 c0001 t0046 g0281 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02738 hp2 a0001 c0001 t0001 g0218 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02809 hp1 a0001 c0001 t0007 g0196 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02809 hp2 a0001 c0001 t0019 g0015 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02818 hp1 a0001 c0001 t0032 g0227 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02818 hp2 a0008 c0014 t0133 g0008 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02886 hp1 a0001 c0001 t0042 g0355 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02886 hp2 a0002 c0003 t0006 g0119 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02895 hp1 a0001 c0005 t0005 g0025 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02895 hp2 a0001 c0001 t0022 g0358 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02896 hp1 a0003 c0004 t0077 g0363 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02896 hp2 a0003 c0004 t0015 g0367 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02897 hp1 a0001 c0005 t0005 g0024 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02897 hp2 a0003 c0004 t0070 g0277 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02922 hp1 a0001 c0001 t0090 g0012 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02922 hp2 a0004 c0007 t0020 g0010 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02965 hp1 a0001 c0001 t0031 g0269 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02965 hp2 a0001 c0001 t0069 g0272 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02970 hp1 a0003 c0004 t0031 g0261 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02970 hp2 a0001 c0001 t0019 g0014 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02976 hp1 a0001 c0001 t0096 g0062 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02976 hp2 a0001 c0001 t0012 g0231 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03041 hp1 a0001 c0001 t0033 g0357 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03041 hp2 a0003 c0004 t0013 g0262 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03098 hp1 a0001 c0002 t0002 g0039 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03098 hp2 a0001 c0001 t0075 g0271 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03130 hp1 a0001 c0001 t0123 g0029 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03130 hp2 a0003 c0004 t0015 g0370 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03139 hp1 a0001 c0001 t0019 g0013 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03139 hp2 a0002 c0003 t0011 g0120 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03195 hp1 a0002 c0003 t0011 g0118 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03195 hp2 a0001 c0001 t0009 g0111 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03225 hp1 a0001 c0002 t0002 g0058 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03225 hp2 a0001 c0001 t0074 g0011 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03453 hp1 a0001 c0001 t0087 g0117 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03453 hp2 a0001 c0001 t0033 g0356 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03486 hp1 a0001 c0001 t0081 g0108 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03486 hp2 a0001 c0001 t0080 g0114 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03490 hp1 a0001 c0001 t0001 g0188 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03490 hp2 a0001 c0002 t0113 g0087 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03491 hp1 a0001 c0002 t0002 g0090 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03491 hp2 a0001 c0001 t0025 g0007 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03492 hp1 a0001 c0001 t0025 g0007 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03492 hp2 a0001 c0001 t0001 g0189 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03516 hp1 a0001 c0001 t0071 g0109 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03516 hp2 a0001 c0001 t0012 g0149 AFR ESN STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03540 hp1 a0003 c0004 t0013 g0265 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03540 hp2 a0003 c0004 t0028 g0361 AFR GWD STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03579 hp1 a0001 c0001 t0029 g0116 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03579 hp2 a0003 c0006 t0092 g0113 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03669 hp1 a0001 c0001 t0041 g0293 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03669 hp2 a0001 c0001 t0007 g0081 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03688 hp1 a0001 c0002 t0005 g0091 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03688 hp2 a0001 c0001 t0007 g0217 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03704 hp1 a0001 c0001 t0053 g0324 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03704 hp2 a0001 c0002 t0005 g0031 SAS PJL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03834 hp1 a0001 c0001 t0047 g0366 SAS BEB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03834 hp2 a0002 c0003 t0083 g0132 SAS BEB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03942 hp1 a0001 c0001 t0043 g0308 SAS BEB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03942 hp2 a0001 c0001 t0001 g0191 SAS BEB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04115 hp1 a0002 c0003 t0089 g0143 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04115 hp2 a0001 c0001 t0003 g0274 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04184 hp1 a0001 c0001 t0045 g0350 SAS BEB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04184 hp2 a0001 c0001 t0007 g0083 SAS BEB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04199 hp1 a0002 c0003 t0065 g0121 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04199 hp2 a0001 c0001 t0010 g0320 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04204 hp1 a0001 c0002 t0105 g0092 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04204 hp2 a0001 c0001 t0007 g0195 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04228 hp1 a0001 c0002 t0002 g0030 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG04228 hp2 a0001 c0001 t0073 g0259 SAS STU STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18522 hp1 a0003 c0004 t0013 g0260 AFR YRI STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18522 hp2 a0001 c0001 t0009 g0020 AFR YRI STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18612 hp1 a0001 c0001 t0001 g0192 EAS CHB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18612 hp2 a0002 c0003 t0006 g0135 EAS CHB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18939 hp1 a0001 c0001 t0003 g0303 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18939 hp2 a0001 c0002 t0002 g0059 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18940 hp1 a0001 c0001 t0003 g0304 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18940 hp2 a0001 c0001 t0001 g0216 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18941 hp1 a0001 c0001 t0082 g0334 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18941 hp2 a0001 c0002 t0002 g0055 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18942 hp1 a0001 c0001 t0022 g0330 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18942 hp2 a0001 c0002 t0002 g0035 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18945 hp1 a0001 c0001 t0003 g0327 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18945 hp2 a0001 c0002 t0002 g0067 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18946 hp1 a0001 c0001 t0008 g0333 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18946 hp2 a0001 c0001 t0001 g0201 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18947 hp1 a0001 c0001 t0001 g0199 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18947 hp2 a0001 c0002 t0002 g0054 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18948 hp1 a0001 c0001 t0007 g0181 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18948 hp2 a0001 c0002 t0002 g0061 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18951 hp1 a0001 c0001 t0004 g0248 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18951 hp2 a0001 c0001 t0018 g0226 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18952 hp1 a0002 c0003 t0085 g0133 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18952 hp2 a0001 c0001 t0001 g0006 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18953 hp1 a0001 c0001 t0027 g0244 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18953 hp2 a0001 c0001 t0003 g0318 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18957 hp1 a0001 c0002 t0037 g0047 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18957 hp2 a0001 c0001 t0036 g0153 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18961 hp1 a0001 c0002 t0125 g0042 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18961 hp2 a0001 c0001 t0004 g0238 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18962 hp1 a0001 c0001 t0017 g0368 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18962 hp2 a0001 c0001 t0004 g0247 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18963 hp1 a0001 c0001 t0091 g0225 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18963 hp2 a0001 c0001 t0034 g0256 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18964 hp1 a0001 c0011 t0001 g0156 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18964 hp2 a0001 c0002 t0024 g0071 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18968 hp1 a0001 c0001 t0004 g0325 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18968 hp2 a0001 c0001 t0023 g0342 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18969 hp1 a0001 c0001 t0001 g0006 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18969 hp2 a0001 c0002 t0003 g0069 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18970 hp1 a0002 c0003 t0004 g0122 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18970 hp2 a0001 c0001 t0001 g0186 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18973 hp1 a0001 c0001 t0017 g0351 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18973 hp2 a0001 c0001 t0018 g0224 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18975 hp1 a0001 c0001 t0007 g0214 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18975 hp2 a0001 c0001 t0004 g0295 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18977 hp1 a0001 c0001 t0007 g0152 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18977 hp2 a0001 c0001 t0003 g0294 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18978 hp1 a0002 c0003 t0011 g0131 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18978 hp2 a0001 c0001 t0027 g0249 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18979 hp1 a0001 c0001 t0001 g0200 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18979 hp2 a0001 c0002 t0002 g0051 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18980 hp1 a0001 c0002 t0002 g0050 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18980 hp2 a0001 c0001 t0001 g0173 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18981 hp1 a0001 c0001 t0060 g0242 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18981 hp2 a0001 c0001 t0007 g0212 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18982 hp1 a0001 c0001 t0006 g0296 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18982 hp2 a0001 c0002 t0002 g0064 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18983 hp1 a0001 c0001 t0008 g0341 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18983 hp2 a0001 c0001 t0004 g0284 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18984 hp1 a0001 c0002 t0002 g0041 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18984 hp2 a0001 c0001 t0001 g0202 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18986 hp1 a0001 c0001 t0001 g0166 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18986 hp2 a0001 c0001 t0004 g0285 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18989 hp1 a0001 c0002 t0002 g0044 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18989 hp2 a0001 c0001 t0001 g0208 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18991 hp1 a0001 c0001 t0035 g0167 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18991 hp2 a0001 c0001 t0067 g0337 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18992 hp1 a0001 c0002 t0008 g0038 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18992 hp2 a0001 c0001 t0004 g0241 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18993 hp1 a0001 c0001 t0010 g0322 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18993 hp2 a0001 c0002 t0001 g0094 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18998 hp1 a0001 c0002 t0002 g0063 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18998 hp2 a0001 c0001 t0098 g0257 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18999 hp1 a0001 c0001 t0004 g0251 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18999 hp2 a0001 c0002 t0002 g0002 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19000 hp1 a0001 c0001 t0127 g0215 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19000 hp2 a0001 c0002 t0002 g0068 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19002 hp1 a0001 c0001 t0004 g0300 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19002 hp2 a0001 c0001 t0001 g0187 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19004 hp1 a0001 c0001 t0017 g0369 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19004 hp2 a0001 c0002 t0002 g0065 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19005 hp1 a0001 c0001 t0014 g0290 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19005 hp2 a0001 c0001 t0001 g0205 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19006 hp1 a0001 c0001 t0008 g0349 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19006 hp2 a0001 c0001 t0097 g0222 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19007 hp1 a0001 c0001 t0001 g0185 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19007 hp2 a0001 c0001 t0014 g0291 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19009 hp1 a0001 c0001 t0002 g0344 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19009 hp2 a0001 c0001 t0101 g0005 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19011 hp1 a0001 c0001 t0122 g0150 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19011 hp2 a0001 c0001 t0001 g0243 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19030 hp1 a0001 c0001 t0009 g0018 AFR LWK STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19030 hp2 a0001 c0001 t0012 g0232 AFR LWK STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19043 hp1 a0003 c0004 t0020 g0276 AFR LWK STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19043 hp2 a0003 c0004 t0021 g0331 AFR LWK STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19054 hp1 a0001 c0001 t0002 g0168 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19054 hp2 a0001 c0002 t0001 g0106 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19056 hp1 a0001 c0001 t0017 g0288 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19056 hp2 a0001 c0001 t0014 g0336 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19057 hp1 a0001 c0001 t0008 g0340 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19057 hp2 a0001 c0001 t0001 g0163 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19058 hp1 a0001 c0001 t0001 g0180 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19058 hp2 a0001 c0001 t0018 g0223 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19060 hp1 a0001 c0001 t0035 g0005 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19060 hp2 a0001 c0002 t0002 g0002 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19062 hp1 a0001 c0001 t0024 g0307 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19062 hp2 a0001 c0001 t0001 g0198 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19063 hp1 a0001 c0001 t0068 g0339 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19063 hp2 a0001 c0002 t0002 g0066 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19064 hp1 a0001 c0001 t0004 g0240 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19064 hp2 a0001 c0001 t0007 g0213 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19065 hp1 a0001 c0001 t0004 g0236 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19065 hp2 a0001 c0001 t0003 g0309 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19066 hp1 a0001 c0001 t0001 g0220 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19066 hp2 a0001 c0002 t0002 g0053 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19067 hp1 a0001 c0001 t0129 g0161 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19067 hp2 a0005 c0015 t0011 g0023 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19068 hp1 a0001 c0001 t0023 g0343 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19068 hp2 a0001 c0002 t0002 g0043 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19070 hp1 a0001 c0001 t0008 g0347 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19070 hp2 a0001 c0001 t0007 g0162 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19074 hp1 a0002 c0003 t0004 g0123 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19074 hp2 a0001 c0001 t0007 g0179 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19075 hp1 a0001 c0001 t0119 g0148 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19075 hp2 a0001 c0001 t0048 g0346 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19079 hp1 a0001 c0002 t0037 g0048 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19079 hp2 a0001 c0001 t0001 g0207 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19080 hp1 a0001 c0001 t0003 g0301 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19080 hp2 a0001 c0001 t0007 g0151 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19081 hp1 a0001 c0002 t0002 g0036 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19081 hp2 a0002 c0003 t0004 g0124 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19082 hp1 a0001 c0001 t0001 g0172 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19082 hp2 a0001 c0002 t0002 g0034 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19083 hp1 a0001 c0001 t0001 g0165 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19083 hp2 a0001 c0001 t0093 g0237 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19084 hp1 a0001 c0002 t0002 g0001 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19084 hp2 a0001 c0001 t0006 g0306 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19085 hp1 a0001 c0001 t0014 g0292 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19085 hp2 a0001 c0001 t0036 g0154 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19086 hp1 a0001 c0001 t0061 g0239 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19086 hp2 a0001 c0002 t0002 g0001 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19088 hp1 a0001 c0001 t0004 g0299 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19088 hp2 a0001 c0002 t0128 g0057 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19090 hp1 a0001 c0001 t0003 g0328 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19090 hp2 a0001 c0001 t0106 g0176 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19091 hp1 a0001 c0001 t0001 g0178 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19091 hp2 a0001 c0001 t0004 g0252 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19240 hp1 a0003 c0004 t0015 g0279 AFR YRI STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA19240 hp2 a0001 c0001 t0064 g0016 AFR YRI STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA20129 hp1 a0001 c0001 t0008 g0353 AFR ASW STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA20129 hp2 a0001 c0001 t0001 g0194 AFR ASW STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA20905 hp1 a0001 c0001 t0001 g0084 SAS GIH STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA20905 hp2 a0001 c0002 t0005 g0096 SAS GIH STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01123 hp1 a0001 c0002 t0005 g0078 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG01123 hp2 a0002 c0003 t0030 g0126 AMR CLM STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02109 hp1 a0001 c0001 t0050 g0360 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02109 hp2 a0003 c0004 t0131 g0264 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02486 hp1 a0003 c0006 t0094 g0022 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02486 hp2 a0001 c0001 t0078 g0234 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02559 hp1 a0001 c0001 t0114 g0026 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG02559 hp2 a0001 c0001 t0072 g0273 AFR ACB STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03471 hp1 a0001 c0001 t0099 g0021 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG03471 hp2 a0001 c0001 t0012 g0230 AFR MSL STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG06807 hp1 a0001 c0001 t0029 g0115 AFR USA STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
HG06807 hp2 a0001 c0001 t0008 g0359 AFR USA STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18955 hp1 a0001 c0001 t0007 g0348 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA18955 hp2 a0001 c0002 t0002 g0107 EAS JPT STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA20300 hp1 a0001 c0001 t0001 g0183 AFR USA STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA20300 hp2 a0001 c0001 t0009 g0110 AFR USA STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA21309 hp1 a0003 c0004 t0015 g0278 AFR LWK STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
NA21309 hp2 a0001 c0002 t0005 g0102 AFR LWK STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0175 REF REF STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632
homoSapiens_grch38 hp1 a0002 c0003 t0118 g0074 REF REF STXBP4_chr17_54963765_55178632 STXBP4 chr17 54963765 55178632

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
chr17:54968815 G
G
 T
T
 1 a0001
a0001
 2 HG01175.hp1
HG01358.hp2
HG01175.hp1
HG01358.hp2
 splice_region_variant LOW c.-157G>T
c.-157G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/18 chr17 54968815
chr17:54999438 G
G
 A
A
 7 a0001
a0003
a0004
others(4): Show 
a0001
a0003
a0004
a0006
a0007
a0008
a0009
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.274G>A
c.274G>A
 p.Gly92Arg
p.Gly92Arg
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 5/18 481/15590 274/1662 92/553 chr17 54999438
chr17:54999702 T
T
 C
C
 2 a0003
a0009
a0003
a0009
 23 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(20): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02486.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 missense_variant MODERATE c.358T>C
c.358T>C
 p.Cys120Arg
p.Cys120Arg
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/18 565/15590 358/1662 120/553 chr17 54999702
chr17:54999771 C
C
 T
T
 2 a0004
a0008
a0004
a0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 missense_variant MODERATE c.427C>T
c.427C>T
 p.Pro143Ser
p.Pro143Ser
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/18 634/15590 427/1662 143/553 chr17 54999771
chr17:55007596 T
T
 C
C
 1 a0007
a0007
 1 HG01943.hp2
HG01943.hp2
 missense_variant&splice_region_variant MODERATE c.665T>C
c.665T>C
 p.Met222Thr
p.Met222Thr
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/18 872/15590 665/1662 222/553 chr17 55007596
chr17:55078130 G
G
 A
A
 1 a0009
a0009
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.1241G>A
c.1241G>A
 p.Arg414Gln
p.Arg414Gln
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 14/18 1448/15590 1241/1662 414/553 chr17 55078130
chr17:55078176 G
G
 C
C
 1 a0005
a0005
 1 NA19067.hp2
NA19067.hp2
 missense_variant MODERATE c.1287G>C
c.1287G>C
 p.Lys429Asn
p.Lys429Asn
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 14/18 1494/15590 1287/1662 429/553 chr17 55078176
chr17:55081163 G
G
 A
A
 1 a0004
a0004
 2 HG02615.hp1
HG02922.hp2
HG02615.hp1
HG02922.hp2
 missense_variant MODERATE c.1469G>A
c.1469G>A
 p.Arg490His
p.Arg490His
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/18 1676/15590 1469/1662 490/553 chr17 55081163
chr17:55081171 C
C
 T
T
 1 a0006
a0006
 1 HG02080.hp1
HG02080.hp1
 missense_variant MODERATE c.1477C>T
c.1477C>T
 p.Leu493Phe
p.Leu493Phe
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/18 1684/15590 1477/1662 493/553 chr17 55081171

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
chr17:54990915 G
G
 A
A
 1 a0001c0005
a0001c0005
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 synonymous_variant LOW c.138G>A
c.138G>A
 p.Leu46Leu
p.Leu46Leu
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/18 345/15590 138/1662 46/553 chr17 54990915
chr17:54999743 A
A
 G
G
 1 a0003c0006
a0003c0006
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 synonymous_variant LOW c.399A>G
c.399A>G
 p.Gln133Gln
p.Gln133Gln
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/18 606/15590 399/1662 133/553 chr17 54999743
chr17:55000837 G
G
 A
A
 1 a0001c0009
a0001c0009
 1 HG02132.hp2
HG02132.hp2
 synonymous_variant LOW c.528G>A
c.528G>A
 p.Gln176Gln
p.Gln176Gln
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/18 735/15590 528/1662 176/553 chr17 55000837
chr17:55072935 G
G
 A
A
 1 a0001c0011
a0001c0011
 1 NA18964.hp1
NA18964.hp1
 synonymous_variant LOW c.1047G>A
c.1047G>A
 p.Leu349Leu
p.Leu349Leu
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/18 1254/15590 1047/1662 349/553 chr17 55072935
chr17:55081131 G
G
 A
A
 2 a0001c0002
a0001c0005
a0001c0002
a0001c0005
 76 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.1437G>A
c.1437G>A
 p.Ala479Ala
p.Ala479Ala
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/18 1644/15590 1437/1662 479/553 chr17 55081131
chr17:55159824 C
C
 T
T
 1 a0001c0012
a0001c0012
 1 HG02572.hp2
HG02572.hp2
 synonymous_variant LOW c.1575C>T
c.1575C>T
 p.Ile525Ile
p.Ile525Ile
 STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1782/15590 1575/1662 525/553 chr17 55159824

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
chr17:54968792 G
G
 C
C
 1 a0001c0001t0041
a0001c0001t0041
 1 HG03669.hp1
HG03669.hp1
 5_prime_UTR_variant MODIFIER c.-180G>C
c.-180G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/18 17428 chr17 54968792
chr17:55160122 G
G
 T
T
 7 a0001c0001t0132
a0001c0001t0134
a0003c0004t0013
others(4): Show 
a0001c0001t0132
a0001c0001t0134
a0003c0004t0013
a0003c0004t0020
a0003c0004t0131
a0004c0007t0020
a0008c0014t0133
 12 HG02055.hp1
HG02109.hp2
HG02280.hp2
others(9): Show 
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp2
HG02922.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*211G>T
c.*211G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 211 chr17 55160122
chr17:55160322 T
T
 C
C
 108 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(105): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*411T>C
c.*411T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 411 chr17 55160322
chr17:55160411 C
C
 T
T
 1 a0001c0012t0100
a0001c0012t0100
 1 HG02572.hp2
HG02572.hp2
 3_prime_UTR_variant MODIFIER c.*500C>T
c.*500C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 500 chr17 55160411
chr17:55160482 A
A
 G
G
 108 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(105): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*571A>G
c.*571A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 571 chr17 55160482
chr17:55160541 G
G
 A
A
 2 a0003c0004t0021
a0009c0008t0021
a0003c0004t0021
a0009c0008t0021
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*630G>A
c.*630G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 630 chr17 55160541
chr17:55160598 T
T
 C
C
 33 a0001c0001t0003
a0001c0001t0008
a0001c0001t0010
others(30): Show 
a0001c0001t0003
a0001c0001t0008
a0001c0001t0010
a0001c0001t0014
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0002t0003
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0002c0003t0003
a0002c0003t0051
a0002c0003t0054
a0007c0010t0003
 72 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(69): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18977.hp2
NA18983.hp1
NA18992.hp1
NA18993.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19085.hp1
NA19090.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*687T>C
c.*687T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 687 chr17 55160598
chr17:55160830 G
G
 A
A
 1 a0001c0001t0058
a0001c0001t0058
 1 HG01433.hp1
HG01433.hp1
 3_prime_UTR_variant MODIFIER c.*919G>A
c.*919G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 919 chr17 55160830
chr17:55160873 C
C
 T
T
 2 a0001c0001t0134
a0008c0014t0133
a0001c0001t0134
a0008c0014t0133
 2 HG02622.hp2
HG02818.hp2
HG02622.hp2
HG02818.hp2
 3_prime_UTR_variant MODIFIER c.*962C>T
c.*962C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 962 chr17 55160873
chr17:55160895 C
C
 T
T
 1 a0001c0001t0130
a0001c0001t0130
 1 HG02717.hp2
HG02717.hp2
 3_prime_UTR_variant MODIFIER c.*984C>T
c.*984C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 984 chr17 55160895
chr17:55160932 A
A
 G
G
 1 a0001c0012t0100
a0001c0012t0100
 1 HG02572.hp2
HG02572.hp2
 3_prime_UTR_variant MODIFIER c.*1021A>G
c.*1021A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1021 chr17 55160932
chr17:55161000 T
T
 C
C
 1 a0003c0004t0059
a0003c0004t0059
 1 HG02723.hp1
HG02723.hp1
 3_prime_UTR_variant MODIFIER c.*1089T>C
c.*1089T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1089 chr17 55161000
chr17:55161019 T
T
 A
A
 7 a0001c0001t0132
a0001c0001t0134
a0003c0004t0013
others(4): Show 
a0001c0001t0132
a0001c0001t0134
a0003c0004t0013
a0003c0004t0020
a0003c0004t0131
a0004c0007t0020
a0008c0014t0133
 12 HG02055.hp1
HG02109.hp2
HG02280.hp2
others(9): Show 
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp2
HG02922.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1108T>A
c.*1108T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1108 chr17 55161019
chr17:55161239 G
G
 A
A
 1 a0001c0001t0060
a0001c0001t0060
 1 NA18981.hp1
NA18981.hp1
 3_prime_UTR_variant MODIFIER c.*1328G>A
c.*1328G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1328 chr17 55161239
chr17:55161289 C
C
 T
T
 1 a0001c0001t0099
a0001c0001t0099
 1 HG03471.hp1
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*1378C>T
c.*1378C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1378 chr17 55161289
chr17:55161367 G
G
 A
A
 94 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(91): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0015
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0006t0092
a0003c0006t0094
a0005c0015t0011
a0007c0010t0003
 196 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(193): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1456G>A
c.*1456G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1456 chr17 55161367
chr17:55161456 T
T
 C
C
 2 a0001c0001t0035
a0001c0001t0101
a0001c0001t0035
a0001c0001t0101
 3 NA18991.hp1
NA19009.hp2
NA19060.hp1
NA18991.hp1
NA19009.hp2
NA19060.hp1
 3_prime_UTR_variant MODIFIER c.*1545T>C
c.*1545T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1545 chr17 55161456
chr17:55161510 C
C
 T
T
 33 a0001c0001t0003
a0001c0001t0008
a0001c0001t0010
others(30): Show 
a0001c0001t0003
a0001c0001t0008
a0001c0001t0010
a0001c0001t0014
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0002t0003
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0002c0003t0003
a0002c0003t0051
a0002c0003t0054
a0007c0010t0003
 72 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(69): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18977.hp2
NA18983.hp1
NA18992.hp1
NA18993.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19085.hp1
NA19090.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*1599C>T
c.*1599C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1599 chr17 55161510
chr17:55161588 C
C
 T
T
 1 a0001c0001t0057
a0001c0001t0057
 1 HG02148.hp1
HG02148.hp1
 3_prime_UTR_variant MODIFIER c.*1677C>T
c.*1677C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1677 chr17 55161588
chr17:55161626 A
A
 G
G
 2 a0003c0004t0021
a0009c0008t0021
a0003c0004t0021
a0009c0008t0021
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*1715A>G
c.*1715A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1715 chr17 55161626
chr17:55161779 C
C
 T
T
 108 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(105): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1868C>T
c.*1868C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1868 chr17 55161779
chr17:55161795 G
G
 C
C
 7 a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
others(4): Show 
a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0002t0004
a0002c0003t0004
 26 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(23): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*1884G>C
c.*1884G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1884 chr17 55161795
chr17:55161859 T
T
 A
A
 7 a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
others(4): Show 
a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0002t0004
a0002c0003t0004
 26 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(23): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*1948T>A
c.*1948T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1948 chr17 55161859
chr17:55161879 T
T
 A
A
 94 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(91): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0015
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0006t0092
a0003c0006t0094
a0005c0015t0011
a0007c0010t0003
 196 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(193): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1968T>A
c.*1968T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 1968 chr17 55161879
chr17:55162015 C
C
 A
A
 1 a0001c0001t0042
a0001c0001t0042
 1 HG02886.hp1
HG02886.hp1
 3_prime_UTR_variant MODIFIER c.*2104C>A
c.*2104C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 2104 chr17 55162015
chr17:55162271 C
C
 T
T
 11 a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
others(8): Show 
a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
a0001c0001t0033
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0003c0006t0092
a0003c0006t0094
 20 HG01109.hp1
HG02280.hp1
HG02486.hp1
others(17): Show 
HG01109.hp1
HG02280.hp1
HG02486.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
NA19083.hp2
 3_prime_UTR_variant MODIFIER c.*2360C>T
c.*2360C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 2360 chr17 55162271
chr17:55162316 A
A
 G
G
 1 a0001c0001t0090
a0001c0001t0090
 1 HG02922.hp1
HG02922.hp1
 3_prime_UTR_variant MODIFIER c.*2405A>G
c.*2405A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 2405 chr17 55162316
chr17:55162404 T
T
 C
C
 1 a0001c0001t0043
a0001c0001t0043
 1 HG03942.hp1
HG03942.hp1
 3_prime_UTR_variant MODIFIER c.*2493T>C
c.*2493T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 2493 chr17 55162404
chr17:55162463 C
C
 G
G
 2 a0001c0001t0031
a0003c0004t0031
a0001c0001t0031
a0003c0004t0031
 2 HG02965.hp1
HG02970.hp1
HG02965.hp1
HG02970.hp1
 3_prime_UTR_variant MODIFIER c.*2552C>G
c.*2552C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 2552 chr17 55162463
chr17:55162505 T
T
 G
G
 1 a0001c0001t0063
a0001c0001t0063
 1 HG02647.hp1
HG02647.hp1
 3_prime_UTR_variant MODIFIER c.*2594T>G
c.*2594T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 2594 chr17 55162505
chr17:55162570 TA
TA
 T
T
 109 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(106): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0002t0039
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 218 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(215): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*2672delA
c.*2672delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 2672 INFO_REALIGN_3_PRIME chr17 55162570
chr17:55162905 C
C
 A
A
 94 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(91): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0015
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0006t0092
a0003c0006t0094
a0005c0015t0011
a0007c0010t0003
 196 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(193): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*2994C>A
c.*2994C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 2994 chr17 55162905
chr17:55163043 A
A
 G
G
 1 a0001c0001t0062
a0001c0001t0062
 1 HG00673.hp1
HG00673.hp1
 3_prime_UTR_variant MODIFIER c.*3132A>G
c.*3132A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3132 chr17 55163043
chr17:55163100 T
T
 C
C
 1 a0001c0002t0102
a0001c0002t0102
 1 HG02027.hp1
HG02027.hp1
 3_prime_UTR_variant MODIFIER c.*3189T>C
c.*3189T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3189 chr17 55163100
chr17:55163193 C
C
 A
A
 12 a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
others(9): Show 
a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
a0001c0001t0033
a0001c0001t0064
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0003c0006t0092
a0003c0006t0094
 21 HG01109.hp1
HG02280.hp1
HG02486.hp1
others(18): Show 
HG01109.hp1
HG02280.hp1
HG02486.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
NA19083.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*3282C>A
c.*3282C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3282 chr17 55163193
chr17:55163218 G
G
 GT
GT
 43 a0001c0001t0004
a0001c0001t0008
a0001c0001t0012
others(40): Show 
a0001c0001t0004
a0001c0001t0008
a0001c0001t0012
a0001c0001t0018
a0001c0001t0022
a0001c0001t0023
a0001c0001t0027
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0042
a0001c0001t0047
a0001c0001t0048
a0001c0001t0057
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0101
a0001c0001t0127
a0001c0001t0130
a0001c0002t0004
a0001c0002t0008
a0001c0002t0125
a0001c0002t0126
a0002c0003t0004
a0003c0004t0015
a0003c0004t0031
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0006t0092
a0003c0006t0094
 87 HG00099.hp1
HG00673.hp1
HG01109.hp1
others(84): Show 
HG00099.hp1
HG00673.hp1
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03834.hp1
HG04228.hp2
HG06807.hp2
NA18942.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18973.hp2
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19006.hp1
NA19009.hp2
NA19030.hp2
NA19057.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*3323dupT
c.*3323dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3324 INFO_REALIGN_3_PRIME chr17 55163218
chr17:55163218 G
G
 GTT
GTT
 49 a0001c0001t0003
a0001c0001t0006
a0001c0001t0009
others(46): Show 
a0001c0001t0003
a0001c0001t0006
a0001c0001t0009
a0001c0001t0010
a0001c0001t0014
a0001c0001t0017
a0001c0001t0019
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0029
a0001c0001t0041
a0001c0001t0043
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0063
a0001c0001t0064
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0096
a0001c0001t0097
a0001c0001t0129
a0001c0002t0003
a0001c0002t0024
a0001c0002t0128
a0001c0009t0003
a0002c0003t0003
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0005c0015t0011
a0007c0010t0003
 106 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(103): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18945.hp1
NA18952.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18969.hp2
NA18973.hp1
NA18977.hp2
NA18978.hp1
NA18982.hp1
NA18993.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19062.hp1
NA19065.hp2
NA19067.hp1
NA19067.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*3322_*3323dupTT
c.*3322_*3323dupTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3324 INFO_REALIGN_3_PRIME chr17 55163218
chr17:55163218 GT
GT
 G
G
 13 a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
others(10): Show 
a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
a0001c0001t0103
a0001c0001t0132
a0001c0001t0134
a0001c0002t0104
a0001c0012t0100
a0003c0004t0013
a0003c0004t0020
a0003c0004t0131
a0004c0007t0020
a0008c0014t0133
 19 HG00673.hp2
HG01169.hp1
HG01433.hp1
others(16): Show 
HG00673.hp2
HG01169.hp1
HG01433.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp2
HG02922.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA18963.hp2
NA18998.hp2
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*3323delT
c.*3323delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3323 INFO_REALIGN_3_PRIME chr17 55163218
chr17:55163385 T
T
 C
C
 1 a0001c0001t0064
a0001c0001t0064
 1 NA19240.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*3474T>C
c.*3474T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3474 chr17 55163385
chr17:55163543 A
A
 C
C
 1 a0001c0001t0099
a0001c0001t0099
 1 HG03471.hp1
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*3632A>C
c.*3632A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3632 chr17 55163543
chr17:55163836 G
G
 GA
GA
 108 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(105): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*3933dupA
c.*3933dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 3934 INFO_REALIGN_3_PRIME chr17 55163836
chr17:55164026 C
C
 T
T
 94 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(91): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0015
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0006t0092
a0003c0006t0094
a0005c0015t0011
a0007c0010t0003
 196 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(193): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*4115C>T
c.*4115C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4115 chr17 55164026
chr17:55164062 C
C
 G
G
 2 a0003c0004t0021
a0009c0008t0021
a0003c0004t0021
a0009c0008t0021
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*4151C>G
c.*4151C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4151 chr17 55164062
chr17:55164147 T
T
 C
C
 1 a0001c0002t0105
a0001c0002t0105
 1 HG04204.hp1
HG04204.hp1
 3_prime_UTR_variant MODIFIER c.*4236T>C
c.*4236T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4236 chr17 55164147
chr17:55164183 T
T
 G
G
 1 a0002c0003t0079
a0002c0003t0079
 1 HG01109.hp2
HG01109.hp2
 3_prime_UTR_variant MODIFIER c.*4272T>G
c.*4272T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4272 chr17 55164183
chr17:55164339 A
A
 G
G
 108 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(105): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*4428A>G
c.*4428A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4428 chr17 55164339
chr17:55164392 C
C
 T
T
 2 a0003c0004t0021
a0009c0008t0021
a0003c0004t0021
a0009c0008t0021
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*4481C>T
c.*4481C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4481 chr17 55164392
chr17:55164438 C
C
 CT
CT
 16 a0001c0001t0007
a0001c0001t0035
a0001c0001t0096
others(13): Show 
a0001c0001t0007
a0001c0001t0035
a0001c0001t0096
a0001c0001t0101
a0001c0001t0122
a0001c0001t0123
a0001c0001t0132
a0001c0002t0037
a0001c0002t0038
a0001c0002t0039
a0001c0002t0104
a0003c0004t0013
a0003c0004t0020
a0003c0004t0131
a0004c0007t0020
a0008c0014t0133
 38 HG00735.hp1
HG01074.hp1
HG01169.hp1
others(35): Show 
HG00735.hp1
HG01074.hp1
HG01169.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp2
HG02615.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp2
HG04184.hp2
HG04204.hp2
NA18522.hp1
NA18948.hp1
NA18955.hp1
NA18957.hp1
NA18975.hp1
NA18977.hp1
NA18981.hp2
NA18991.hp1
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19060.hp1
NA19064.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19080.hp2
 3_prime_UTR_variant MODIFIER c.*4550dupT
c.*4550dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4551 INFO_REALIGN_3_PRIME chr17 55164438
chr17:55164438 C
C
 CTT
CTT
 9 a0001c0001t0034
a0001c0001t0058
a0001c0001t0069
others(6): Show 
a0001c0001t0034
a0001c0001t0058
a0001c0001t0069
a0001c0001t0098
a0001c0001t0099
a0001c0001t0124
a0001c0001t0129
a0001c0001t0134
a0003c0004t0070
 10 HG00673.hp2
HG01243.hp2
HG01433.hp1
others(7): Show 
HG00673.hp2
HG01243.hp2
HG01433.hp1
HG02622.hp2
HG02897.hp2
HG02965.hp2
HG03471.hp1
NA18963.hp2
NA18998.hp2
NA19067.hp1
 3_prime_UTR_variant MODIFIER c.*4549_*4550dupTT
c.*4549_*4550dupTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4551 INFO_REALIGN_3_PRIME chr17 55164438
chr17:55164438 C
C
 CTTT
CTTT
 12 a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
others(9): Show 
a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
a0001c0001t0033
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0091
a0001c0012t0100
a0002c0003t0016
a0003c0004t0015
a0003c0006t0092
 27 HG01070.hp1
HG01109.hp1
HG01928.hp1
others(24): Show 
HG01070.hp1
HG01109.hp1
HG01928.hp1
HG01993.hp1
HG02273.hp2
HG02280.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp2
HG02818.hp1
HG02896.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG04228.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19030.hp2
NA19058.hp2
NA19240.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*4548_*4550dupTTT
c.*4548_*4550dupTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4551 INFO_REALIGN_3_PRIME chr17 55164438
chr17:55164438 C
C
 CTTTT
CTTTT
 25 a0001c0001t0006
a0001c0001t0022
a0001c0001t0024
others(22): Show 
a0001c0001t0006
a0001c0001t0022
a0001c0001t0024
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0082
a0001c0001t0093
a0001c0001t0095
a0001c0001t0097
a0001c0002t0024
a0002c0003t0006
a0002c0003t0065
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0003c0004t0021
a0003c0004t0028
a0003c0004t0059
a0003c0004t0066
a0003c0004t0076
a0003c0004t0077
a0003c0006t0094
a0009c0008t0021
 39 HG00099.hp2
HG00558.hp2
HG01071.hp1
others(36): Show 
HG00099.hp2
HG00558.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG02056.hp2
HG02071.hp1
HG02257.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG03098.hp2
HG03225.hp2
HG03540.hp2
HG03834.hp2
HG04199.hp1
NA18612.hp2
NA18941.hp1
NA18942.hp1
NA18952.hp1
NA18964.hp2
NA18982.hp1
NA19006.hp2
NA19043.hp2
NA19062.hp1
NA19083.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*4547_*4550dupTTTT
c.*4547_*4550dupTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4551 INFO_REALIGN_3_PRIME chr17 55164438
chr17:55164438 C
C
 CTTTTT
CTTTTT
 30 a0001c0001t0003
a0001c0001t0008
a0001c0001t0014
others(27): Show 
a0001c0001t0003
a0001c0001t0008
a0001c0001t0014
a0001c0001t0017
a0001c0001t0025
a0001c0001t0026
a0001c0001t0040
a0001c0001t0041
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0047
a0001c0001t0048
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0057
a0001c0001t0064
a0001c0001t0067
a0001c0001t0087
a0001c0002t0003
a0001c0002t0008
a0001c0009t0003
a0002c0003t0003
a0002c0003t0011
a0002c0003t0030
a0002c0003t0051
a0002c0003t0079
a0005c0015t0011
a0007c0010t0003
 70 HG00423.hp2
HG00621.hp1
HG00642.hp1
others(67): Show 
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01517.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02451.hp1
HG02602.hp1
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18977.hp2
NA18978.hp1
NA18983.hp1
NA18991.hp2
NA18992.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19065.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19085.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*4546_*4550dupTTTT
others(1): Show 
c.*4546_*4550dupTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4551 INFO_REALIGN_3_PRIME chr17 55164438
chr17:55164438 C
C
 CTTTTTT
CTTTTTT
 10 a0001c0001t0010
a0001c0001t0023
a0001c0001t0042
others(7): Show 
a0001c0001t0010
a0001c0001t0023
a0001c0001t0042
a0001c0001t0046
a0001c0001t0055
a0001c0001t0056
a0001c0001t0068
a0002c0003t0054
a0002c0003t0088
a0002c0003t0089
 15 HG00280.hp2
HG00438.hp2
HG01496.hp2
others(12): Show 
HG00280.hp2
HG00438.hp2
HG01496.hp2
HG01928.hp2
HG02055.hp2
HG02300.hp1
HG02683.hp1
HG02738.hp1
HG02886.hp1
HG04115.hp1
HG04199.hp2
NA18968.hp2
NA18993.hp1
NA19063.hp1
NA19068.hp1
 3_prime_UTR_variant MODIFIER c.*4545_*4550dupTTTT
others(2): Show 
c.*4545_*4550dupTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4551 INFO_REALIGN_3_PRIME chr17 55164438
chr17:55164438 CTTT
CTTT
 C
C
 5 a0001c0001t0009
a0001c0001t0063
a0001c0001t0080
others(2): Show 
a0001c0001t0009
a0001c0001t0063
a0001c0001t0080
a0001c0001t0081
a0001c0001t0090
 11 HG02257.hp2
HG02647.hp1
HG02717.hp1
others(8): Show 
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02922.hp1
HG03195.hp2
HG03486.hp1
HG03486.hp2
NA18522.hp2
NA19030.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4548_*4550delTTT
c.*4548_*4550delTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4548 INFO_REALIGN_3_PRIME chr17 55164438
chr17:55164438 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 7 a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
others(4): Show 
a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0002t0004
a0002c0003t0004
 26 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(23): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*4539_*4550delTTTT
others(8): Show 
c.*4539_*4550delTTTTTTTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4539 INFO_REALIGN_3_PRIME chr17 55164438
chr17:55164469 A
A
 C
C
 1 a0001c0001t0073
a0001c0001t0073
 1 HG04228.hp2
HG04228.hp2
 3_prime_UTR_variant MODIFIER c.*4558A>C
c.*4558A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4558 chr17 55164469
chr17:55164509 G
G
 T
T
 1 a0001c0001t0123
a0001c0001t0123
 1 HG03130.hp1
HG03130.hp1
 3_prime_UTR_variant MODIFIER c.*4598G>T
c.*4598G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4598 chr17 55164509
chr17:55164517 C
C
 T
T
 1 a0001c0001t0073
a0001c0001t0073
 1 HG04228.hp2
HG04228.hp2
 3_prime_UTR_variant MODIFIER c.*4606C>T
c.*4606C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4606 chr17 55164517
chr17:55164544 G
G
 C
C
 109 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(106): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0002t0039
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 218 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(215): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*4633G>C
c.*4633G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4633 chr17 55164544
chr17:55164608 G
G
 A
A
 1 a0001c0001t0106
a0001c0001t0106
 1 NA19090.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*4697G>A
c.*4697G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4697 chr17 55164608
chr17:55164659 A
A
 G
G
 1 a0001c0001t0078
a0001c0001t0078
 1 HG02486.hp2
HG02486.hp2
 3_prime_UTR_variant MODIFIER c.*4748A>G
c.*4748A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4748 chr17 55164659
chr17:55164741 C
C
 G
G
 1 a0001c0001t0078
a0001c0001t0078
 1 HG02486.hp2
HG02486.hp2
 3_prime_UTR_variant MODIFIER c.*4830C>G
c.*4830C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4830 chr17 55164741
chr17:55164744 G
G
 A
A
 7 a0001c0001t0132
a0001c0001t0134
a0003c0004t0013
others(4): Show 
a0001c0001t0132
a0001c0001t0134
a0003c0004t0013
a0003c0004t0020
a0003c0004t0131
a0004c0007t0020
a0008c0014t0133
 12 HG02055.hp1
HG02109.hp2
HG02280.hp2
others(9): Show 
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp2
HG02922.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*4833G>A
c.*4833G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4833 chr17 55164744
chr17:55164817 G
G
 A
A
 5 a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
others(2): Show 
a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
a0001c0001t0099
a0001c0012t0100
 6 HG00673.hp2
HG01433.hp1
HG02572.hp2
others(3): Show 
HG00673.hp2
HG01433.hp1
HG02572.hp2
HG03471.hp1
NA18963.hp2
NA18998.hp2
 3_prime_UTR_variant MODIFIER c.*4906G>A
c.*4906G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4906 chr17 55164817
chr17:55164904 C
C
 T
T
 1 a0002c0003t0086
a0002c0003t0086
 1 HG01106.hp1
HG01106.hp1
 3_prime_UTR_variant MODIFIER c.*4993C>T
c.*4993C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 4993 chr17 55164904
chr17:55164943 G
G
 C
C
 20 a0001c0001t0002
a0001c0001t0005
a0001c0002t0002
others(17): Show 
a0001c0001t0002
a0001c0001t0005
a0001c0002t0002
a0001c0002t0005
a0001c0002t0037
a0001c0002t0038
a0001c0002t0102
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0113
a0001c0002t0125
a0001c0002t0126
a0001c0002t0128
a0001c0005t0005
 71 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(68): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19054.hp1
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*5032G>C
c.*5032G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5032 chr17 55164943
chr17:55164956 G
G
 T
T
 1 a0001c0001t0063
a0001c0001t0063
 1 HG02647.hp1
HG02647.hp1
 3_prime_UTR_variant MODIFIER c.*5045G>T
c.*5045G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5045 chr17 55164956
chr17:55165030 A
A
 T
T
 8 a0001c0001t0005
a0001c0002t0005
a0001c0002t0038
others(5): Show 
a0001c0001t0005
a0001c0002t0005
a0001c0002t0038
a0001c0002t0104
a0001c0002t0112
a0001c0002t0113
a0001c0002t0126
a0001c0005t0005
 27 HG00099.hp1
HG00280.hp1
HG00639.hp1
others(24): Show 
HG00099.hp1
HG00280.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02148.hp2
HG02683.hp2
HG02698.hp2
HG02895.hp1
HG02897.hp1
HG03490.hp2
HG03688.hp1
HG03704.hp2
NA20905.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*5119A>T
c.*5119A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5119 chr17 55165030
chr17:55165043 G
G
 A
A
 1 a0001c0002t0039
a0001c0002t0039
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 3_prime_UTR_variant MODIFIER c.*5132G>A
c.*5132G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5132 chr17 55165043
chr17:55165195 A
A
 G
G
 1 a0001c0001t0132
a0001c0001t0132
 1 HG02280.hp2
HG02280.hp2
 3_prime_UTR_variant MODIFIER c.*5284A>G
c.*5284A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5284 chr17 55165195
chr17:55165242 C
C
 T
T
 1 a0001c0001t0056
a0001c0001t0056
 1 HG01928.hp2
HG01928.hp2
 3_prime_UTR_variant MODIFIER c.*5331C>T
c.*5331C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5331 chr17 55165242
chr17:55165404 T
T
 A
A
 6 a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
others(3): Show 
a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
a0001c0001t0091
a0001c0001t0093
a0001c0001t0097
 14 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(11): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
NA19083.hp2
 3_prime_UTR_variant MODIFIER c.*5493T>A
c.*5493T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5493 chr17 55165404
chr17:55165475 TA
TA
 T
T
 4 a0003c0004t0028
a0003c0004t0059
a0003c0004t0066
others(1): Show 
a0003c0004t0028
a0003c0004t0059
a0003c0004t0066
a0003c0004t0077
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 3_prime_UTR_variant MODIFIER c.*5565delA
c.*5565delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5565 chr17 55165475
chr17:55165514 GC
GC
 G
G
 5 a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
others(2): Show 
a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
a0001c0001t0099
a0001c0012t0100
 6 HG00673.hp2
HG01433.hp1
HG02572.hp2
others(3): Show 
HG00673.hp2
HG01433.hp1
HG02572.hp2
HG03471.hp1
NA18963.hp2
NA18998.hp2
 3_prime_UTR_variant MODIFIER c.*5604delC
c.*5604delC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5604 chr17 55165514
chr17:55165516 A
A
 G
G
 2 a0001c0001t0053
a0001c0001t0055
a0001c0001t0053
a0001c0001t0055
 2 HG00280.hp2
HG03704.hp1
HG00280.hp2
HG03704.hp1
 3_prime_UTR_variant MODIFIER c.*5605A>G
c.*5605A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5605 chr17 55165516
chr17:55165517 A
A
 G
G
 109 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(106): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0002t0039
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 218 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(215): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*5606A>G
c.*5606A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5606 chr17 55165517
chr17:55165538 T
T
 A
A
 108 a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
others(105): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0132
a0001c0001t0134
a0001c0002t0003
a0001c0002t0004
a0001c0002t0008
a0001c0002t0024
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*5627T>A
c.*5627T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 5627 chr17 55165538
chr17:55165955 A
A
 G
G
 3 a0003c0004t0015
a0003c0004t0070
a0003c0004t0076
a0003c0004t0015
a0003c0004t0070
a0003c0004t0076
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*6044A>G
c.*6044A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 6044 chr17 55165955
chr17:55166005 A
A
 G
G
 1 a0001c0001t0061
a0001c0001t0061
 1 NA19086.hp1
NA19086.hp1
 3_prime_UTR_variant MODIFIER c.*6094A>G
c.*6094A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 6094 chr17 55166005
chr17:55166125 C
C
 T
T
 1 a0001c0001t0026
a0001c0001t0026
 2 HG00733.hp1
HG01074.hp2
HG00733.hp1
HG01074.hp2
 3_prime_UTR_variant MODIFIER c.*6214C>T
c.*6214C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 6214 chr17 55166125
chr17:55166370 A
A
 G
G
 1 a0001c0001t0121
a0001c0001t0121
 1 HG02273.hp1
HG02273.hp1
 3_prime_UTR_variant MODIFIER c.*6459A>G
c.*6459A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 6459 chr17 55166370
chr17:55166586 A
A
 G
G
 1 a0001c0001t0048
a0001c0001t0048
 1 NA19075.hp2
NA19075.hp2
 3_prime_UTR_variant MODIFIER c.*6675A>G
c.*6675A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 6675 chr17 55166586
chr17:55166718 A
A
 G
G
 1 a0001c0001t0073
a0001c0001t0073
 1 HG04228.hp2
HG04228.hp2
 3_prime_UTR_variant MODIFIER c.*6807A>G
c.*6807A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 6807 chr17 55166718
chr17:55166776 G
G
 A
A
 1 a0001c0001t0073
a0001c0001t0073
 1 HG04228.hp2
HG04228.hp2
 3_prime_UTR_variant MODIFIER c.*6865G>A
c.*6865G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 6865 chr17 55166776
chr17:55167002 A
A
 G
G
 1 a0001c0002t0111
a0001c0002t0111
 1 HG02129.hp2
HG02129.hp2
 3_prime_UTR_variant MODIFIER c.*7091A>G
c.*7091A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7091 chr17 55167002
chr17:55167051 G
G
 A
A
 1 a0001c0002t0107
a0001c0002t0107
 1 HG02132.hp1
HG02132.hp1
 3_prime_UTR_variant MODIFIER c.*7140G>A
c.*7140G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7140 chr17 55167051
chr17:55167357 C
C
 T
T
 1 a0002c0003t0085
a0002c0003t0085
 1 NA18952.hp1
NA18952.hp1
 3_prime_UTR_variant MODIFIER c.*7446C>T
c.*7446C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7446 chr17 55167357
chr17:55167405 T
T
 C
C
 2 a0002c0003t0030
a0002c0003t0088
a0002c0003t0030
a0002c0003t0088
 3 HG01123.hp2
HG01517.hp2
HG02055.hp2
HG01123.hp2
HG01517.hp2
HG02055.hp2
 3_prime_UTR_variant MODIFIER c.*7494T>C
c.*7494T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7494 chr17 55167405
chr17:55167505 G
G
 C
C
 1 a0001c0002t0108
a0001c0002t0108
 1 HG02572.hp1
HG02572.hp1
 3_prime_UTR_variant MODIFIER c.*7594G>C
c.*7594G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7594 chr17 55167505
chr17:55167510 G
G
 T
T
 1 a0001c0001t0081
a0001c0001t0081
 1 HG03486.hp1
HG03486.hp1
 3_prime_UTR_variant MODIFIER c.*7599G>T
c.*7599G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7599 chr17 55167510
chr17:55167640 A
A
 G
G
 5 a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
others(2): Show 
a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
a0002c0003t0084
a0002c0003t0085
 6 HG00558.hp2
HG00673.hp2
HG01433.hp1
others(3): Show 
HG00558.hp2
HG00673.hp2
HG01433.hp1
NA18952.hp1
NA18963.hp2
NA18998.hp2
 3_prime_UTR_variant MODIFIER c.*7729A>G
c.*7729A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7729 chr17 55167640
chr17:55167750 C
C
 T
T
 1 a0001c0001t0121
a0001c0001t0121
 1 HG02273.hp1
HG02273.hp1
 3_prime_UTR_variant MODIFIER c.*7839C>T
c.*7839C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7839 chr17 55167750
chr17:55167866 A
A
 G
G
 18 a0001c0001t0006
a0001c0001t0017
a0001c0001t0067
others(15): Show 
a0001c0001t0006
a0001c0001t0017
a0001c0001t0067
a0001c0001t0068
a0001c0001t0082
a0001c0001t0087
a0001c0001t0099
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0005c0015t0011
 40 HG00099.hp2
HG01070.hp1
HG01071.hp1
others(37): Show 
HG00099.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18941.hp1
NA18962.hp1
NA18973.hp1
NA18978.hp1
NA18982.hp1
NA18991.hp2
NA19004.hp1
NA19056.hp1
NA19063.hp1
NA19067.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*7955A>G
c.*7955A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7955 chr17 55167866
chr17:55167898 A
A
 G
G
 1 a0001c0001t0025
a0001c0001t0025
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 3_prime_UTR_variant MODIFIER c.*7987A>G
c.*7987A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 7987 chr17 55167898
chr17:55168123 C
C
 CTGAA
CTGAA
 121 a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
others(118): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0114
a0001c0001t0132
a0001c0001t0134
a0001c0002t0002
a0001c0002t0003
a0001c0002t0005
a0001c0002t0008
a0001c0002t0024
a0001c0002t0037
a0001c0002t0038
a0001c0002t0102
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0113
a0001c0002t0125
a0001c0002t0126
a0001c0002t0128
a0001c0005t0005
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 261 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(258): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
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
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*8215_*8216insATGA
c.*8215_*8216insATGA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8216 INFO_REALIGN_3_PRIME chr17 55168123
chr17:55168151 T
T
 C
C
 1 a0001c0002t0039
a0001c0002t0039
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 3_prime_UTR_variant MODIFIER c.*8240T>C
c.*8240T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8240 chr17 55168151
chr17:55168190 T
T
 G
G
 1 a0001c0001t0047
a0001c0001t0047
 1 HG03834.hp1
HG03834.hp1
 3_prime_UTR_variant MODIFIER c.*8279T>G
c.*8279T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8279 chr17 55168190
chr17:55168197 ATG
ATG
 A
A
 12 a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
others(9): Show 
a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0093
a0001c0001t0099
a0001c0001t0116
a0001c0002t0004
a0001c0002t0039
a0002c0003t0004
a0002c0003t0065
 32 HG00673.hp1
HG00735.hp2
HG02027.hp2
others(29): Show 
HG00673.hp1
HG00735.hp2
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02451.hp2
HG02602.hp2
HG03471.hp1
HG04199.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*8304_*8305delGT
c.*8304_*8305delGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8304 INFO_REALIGN_3_PRIME chr17 55168197
chr17:55168213 G
G
 A
A
 1 a0001c0001t0074
a0001c0001t0074
 1 HG03225.hp2
HG03225.hp2
 3_prime_UTR_variant MODIFIER c.*8302G>A
c.*8302G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8302 chr17 55168213
chr17:55168213 G
G
 GTA
GTA
 2 a0001c0001t0034
a0001c0002t0112
a0001c0001t0034
a0001c0002t0112
 3 HG00639.hp1
HG00673.hp2
NA18963.hp2
HG00639.hp1
HG00673.hp2
NA18963.hp2
 3_prime_UTR_variant MODIFIER c.*8303_*8304insAT
c.*8303_*8304insAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8304 INFO_REALIGN_3_PRIME chr17 55168213
chr17:55168215 G
G
 A
A
 116 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(113): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0008
a0001c0001t0010
a0001c0001t0014
a0001c0001t0017
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0082
a0001c0001t0087
a0001c0001t0093
a0001c0001t0096
a0001c0001t0098
a0001c0001t0099
a0001c0001t0114
a0001c0001t0115
a0001c0001t0123
a0001c0001t0132
a0001c0001t0134
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0008
a0001c0002t0024
a0001c0002t0037
a0001c0002t0038
a0001c0002t0039
a0001c0002t0102
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0113
a0001c0002t0125
a0001c0002t0126
a0001c0002t0128
a0001c0005t0005
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0070
a0003c0004t0076
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 260 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(257): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.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.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*8304G>A
c.*8304G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8304 chr17 55168215
chr17:55168242 C
C
 T
T
 6 a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
others(3): Show 
a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
a0001c0001t0091
a0001c0001t0095
a0001c0001t0097
 14 HG01109.hp1
HG02280.hp1
HG02630.hp1
others(11): Show 
HG01109.hp1
HG02280.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 3_prime_UTR_variant MODIFIER c.*8331C>T
c.*8331C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8331 chr17 55168242
chr17:55168246 C
C
 CCA
CCA
 8 a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
others(5): Show 
a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0093
a0001c0002t0004
a0002c0003t0004
 27 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(24): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*8355_*8356dupAC
c.*8355_*8356dupAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8357 INFO_REALIGN_3_PRIME chr17 55168246
chr17:55168246 CCA
CCA
 C
C
 33 a0001c0001t0006
a0001c0001t0017
a0001c0001t0029
others(30): Show 
a0001c0001t0006
a0001c0001t0017
a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0078
a0001c0001t0082
a0001c0001t0087
a0001c0001t0099
a0001c0001t0130
a0001c0002t0113
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0015
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0070
a0003c0004t0076
a0003c0006t0092
a0003c0006t0094
a0005c0015t0011
 61 HG00099.hp2
HG01070.hp1
HG01071.hp1
others(58): Show 
HG00099.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02717.hp2
HG02723.hp1
HG02886.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18612.hp2
NA18941.hp1
NA18962.hp1
NA18973.hp1
NA18978.hp1
NA18982.hp1
NA18991.hp2
NA19004.hp1
NA19056.hp1
NA19063.hp1
NA19067.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*8355_*8356delAC
c.*8355_*8356delAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8355 INFO_REALIGN_3_PRIME chr17 55168246
chr17:55168246 CCACA
CCACA
 C
C
 89 a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
others(86): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0032
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0063
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0080
a0001c0001t0081
a0001c0001t0090
a0001c0001t0091
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0114
a0001c0001t0132
a0001c0001t0134
a0001c0002t0002
a0001c0002t0003
a0001c0002t0005
a0001c0002t0008
a0001c0002t0024
a0001c0002t0037
a0001c0002t0038
a0001c0002t0102
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0125
a0001c0002t0126
a0001c0002t0128
a0001c0005t0005
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0051
a0002c0003t0054
a0002c0003t0084
a0002c0003t0085
a0003c0004t0013
a0003c0004t0020
a0003c0004t0021
a0003c0004t0066
a0003c0004t0077
a0003c0004t0131
a0004c0007t0020
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 201 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(198): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
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
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*8353_*8356delACAC
c.*8353_*8356delACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8353 INFO_REALIGN_3_PRIME chr17 55168246
chr17:55168267 C
C
 T
T
 1 a0001c0001t0091
a0001c0001t0091
 1 NA18963.hp1
NA18963.hp1
 3_prime_UTR_variant MODIFIER c.*8356C>T
c.*8356C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8356 chr17 55168267
chr17:55168372 A
A
 C
C
 30 a0001c0001t0002
a0001c0001t0005
a0001c0001t0012
others(27): Show 
a0001c0001t0002
a0001c0001t0005
a0001c0001t0012
a0001c0001t0018
a0001c0001t0032
a0001c0001t0091
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0114
a0001c0001t0134
a0001c0002t0002
a0001c0002t0005
a0001c0002t0037
a0001c0002t0038
a0001c0002t0102
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0113
a0001c0002t0125
a0001c0002t0126
a0001c0002t0128
a0001c0005t0005
a0008c0014t0133
 89 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(86): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18951.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18963.hp1
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19006.hp2
NA19009.hp1
NA19030.hp2
NA19054.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*8461A>C
c.*8461A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8461 chr17 55168372
chr17:55168381 A
A
 C
C
 4 a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
others(1): Show 
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0075
 4 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(1): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*8470A>C
c.*8470A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8470 chr17 55168381
chr17:55168474 C
C
 T
T
 1 a0001c0001t0027
a0001c0001t0027
 2 NA18953.hp1
NA18978.hp2
NA18953.hp1
NA18978.hp2
 3_prime_UTR_variant MODIFIER c.*8563C>T
c.*8563C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8563 chr17 55168474
chr17:55168568 G
G
 A
A
 1 a0001c0002t0109
a0001c0002t0109
 1 HG02071.hp2
HG02071.hp2
 3_prime_UTR_variant MODIFIER c.*8657G>A
c.*8657G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8657 chr17 55168568
chr17:55168584 A
A
 G
G
 8 a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
others(5): Show 
a0001c0001t0034
a0001c0001t0058
a0001c0001t0098
a0001c0012t0100
a0002c0003t0084
a0002c0003t0085
a0003c0004t0021
a0009c0008t0021
 9 HG00558.hp2
HG00673.hp2
HG01433.hp1
others(6): Show 
HG00558.hp2
HG00673.hp2
HG01433.hp1
HG02572.hp2
HG02630.hp2
NA18952.hp1
NA18963.hp2
NA18998.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*8673A>G
c.*8673A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8673 chr17 55168584
chr17:55168635 T
T
 A
A
 6 a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
others(3): Show 
a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
a0003c0004t0031
a0003c0006t0092
a0003c0006t0094
 8 HG02486.hp1
HG02965.hp1
HG02970.hp1
others(5): Show 
HG02486.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*8724T>A
c.*8724T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8724 chr17 55168635
chr17:55168692 G
G
 A
A
 6 a0001c0001t0019
a0001c0001t0063
a0001c0001t0080
others(3): Show 
a0001c0001t0019
a0001c0001t0063
a0001c0001t0080
a0001c0001t0090
a0003c0004t0066
a0003c0004t0077
 8 HG01081.hp2
HG02647.hp1
HG02809.hp2
others(5): Show 
HG01081.hp2
HG02647.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03486.hp2
 3_prime_UTR_variant MODIFIER c.*8781G>A
c.*8781G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 8781 chr17 55168692
chr17:55168930 C
C
 T
T
 1 a0001c0002t0110
a0001c0002t0110
 1 HG02735.hp2
HG02735.hp2
 3_prime_UTR_variant MODIFIER c.*9019C>T
c.*9019C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9019 chr17 55168930
chr17:55168938 G
G
 T
T
 6 a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
others(3): Show 
a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
a0003c0004t0031
a0003c0006t0092
a0003c0006t0094
 8 HG02486.hp1
HG02965.hp1
HG02970.hp1
others(5): Show 
HG02486.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*9027G>T
c.*9027G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9027 chr17 55168938
chr17:55168966 C
C
 T
T
 1 a0001c0001t0072
a0001c0001t0072
 1 HG02559.hp2
HG02559.hp2
 3_prime_UTR_variant MODIFIER c.*9055C>T
c.*9055C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9055 chr17 55168966
chr17:55169075 G
G
 T
T
 1 a0001c0001t0014
a0001c0001t0014
 4 NA19005.hp1
NA19007.hp2
NA19056.hp2
others(1): Show 
NA19005.hp1
NA19007.hp2
NA19056.hp2
NA19085.hp1
 3_prime_UTR_variant MODIFIER c.*9164G>T
c.*9164G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9164 chr17 55169075
chr17:55169115 A
A
 G
G
 1 a0001c0001t0052
a0001c0001t0052
 1 HG01952.hp1
HG01952.hp1
 3_prime_UTR_variant MODIFIER c.*9204A>G
c.*9204A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9204 chr17 55169115
chr17:55169176 G
G
 T
T
 1 a0001c0001t0120
a0001c0001t0120
 1 HG01070.hp2
HG01070.hp2
 3_prime_UTR_variant MODIFIER c.*9265G>T
c.*9265G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9265 chr17 55169176
chr17:55169227 A
A
 G
G
 2 a0001c0001t0119
a0001c0001t0122
a0001c0001t0119
a0001c0001t0122
 2 NA19011.hp1
NA19075.hp1
NA19011.hp1
NA19075.hp1
 3_prime_UTR_variant MODIFIER c.*9316A>G
c.*9316A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9316 chr17 55169227
chr17:55169760 A
A
 G
G
 1 a0001c0001t0046
a0001c0001t0046
 1 HG02738.hp1
HG02738.hp1
 3_prime_UTR_variant MODIFIER c.*9849A>G
c.*9849A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9849 chr17 55169760
chr17:55169770 G
G
 T
T
 108 a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
others(105): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0032
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0114
a0001c0001t0134
a0001c0002t0002
a0001c0002t0003
a0001c0002t0005
a0001c0002t0008
a0001c0002t0024
a0001c0002t0037
a0001c0002t0038
a0001c0002t0102
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0113
a0001c0002t0125
a0001c0002t0126
a0001c0002t0128
a0001c0005t0005
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0015
a0003c0004t0021
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 240 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(237): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*9859G>T
c.*9859G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9859 chr17 55169770
chr17:55169817 A
A
 G
G
 1 a0001c0001t0087
a0001c0001t0087
 1 HG03453.hp1
HG03453.hp1
 3_prime_UTR_variant MODIFIER c.*9906A>G
c.*9906A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 9906 chr17 55169817
chr17:55170249 C
C
 G
G
 119 a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
others(116): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0114
a0001c0001t0132
a0001c0001t0134
a0001c0002t0002
a0001c0002t0003
a0001c0002t0005
a0001c0002t0008
a0001c0002t0024
a0001c0002t0037
a0001c0002t0038
a0001c0002t0102
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0113
a0001c0002t0125
a0001c0002t0126
a0001c0002t0128
a0001c0005t0005
a0001c0009t0003
a0001c0012t0100
a0002c0003t0003
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0031
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 258 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(255): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
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
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*10338C>G
c.*10338C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 10338 chr17 55170249
chr17:55170513 C
C
 A
A
 152 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(149): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0014
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0078
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0087
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0101
a0001c0001t0103
a0001c0001t0106
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0123
a0001c0001t0124
a0001c0001t0127
a0001c0001t0129
a0001c0001t0130
a0001c0001t0132
a0001c0001t0134
a0001c0002t0001
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0005
a0001c0002t0008
a0001c0002t0024
a0001c0002t0037
a0001c0002t0038
a0001c0002t0039
a0001c0002t0102
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0113
a0001c0002t0125
a0001c0002t0126
a0001c0002t0128
a0001c0005t0005
a0001c0009t0003
a0001c0011t0001
a0001c0012t0100
a0002c0003t0003
a0002c0003t0004
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0051
a0002c0003t0054
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0084
a0002c0003t0085
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0013
a0003c0004t0015
a0003c0004t0020
a0003c0004t0021
a0003c0004t0028
a0003c0004t0031
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0003c0004t0131
a0003c0006t0092
a0003c0006t0094
a0004c0007t0020
a0005c0015t0011
a0006c0013t0001
a0007c0010t0003
a0008c0014t0133
a0009c0008t0021
 377 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(374): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.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
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
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.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
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*10602C>A
c.*10602C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 10602 chr17 55170513
chr17:55170757 A
A
 T
T
 1 a0001c0001t0036
a0001c0001t0036
 2 NA18957.hp2
NA19085.hp2
NA18957.hp2
NA19085.hp2
 3_prime_UTR_variant MODIFIER c.*10846A>T
c.*10846A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 10846 chr17 55170757
chr17:55170911 G
G
 T
T
 2 a0002c0003t0051
a0002c0003t0054
a0002c0003t0051
a0002c0003t0054
 2 HG00438.hp2
HG02155.hp2
HG00438.hp2
HG02155.hp2
 3_prime_UTR_variant MODIFIER c.*11000G>T
c.*11000G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11000 chr17 55170911
chr17:55170984 A
A
 C
C
 1 a0001c0001t0032
a0001c0001t0032
 2 HG02647.hp2
HG02818.hp1
HG02647.hp2
HG02818.hp1
 3_prime_UTR_variant MODIFIER c.*11073A>C
c.*11073A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11073 chr17 55170984
chr17:55171026 C
C
 T
T
 3 a0001c0001t0132
a0003c0004t0013
a0003c0004t0131
a0001c0001t0132
a0003c0004t0013
a0003c0004t0131
 7 HG02055.hp1
HG02109.hp2
HG02280.hp2
others(4): Show 
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02622.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
 3_prime_UTR_variant MODIFIER c.*11115C>T
c.*11115C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11115 chr17 55171026
chr17:55171085 T
T
 C
C
 6 a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
others(3): Show 
a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
a0003c0004t0031
a0003c0006t0092
a0003c0006t0094
 8 HG02486.hp1
HG02965.hp1
HG02970.hp1
others(5): Show 
HG02486.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*11174T>C
c.*11174T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11174 chr17 55171085
chr17:55171236 C
C
 T
T
 1 a0001c0001t0042
a0001c0001t0042
 1 HG02886.hp1
HG02886.hp1
 3_prime_UTR_variant MODIFIER c.*11325C>T
c.*11325C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11325 chr17 55171236
chr17:55171566 G
G
 A
A
 21 a0001c0001t0003
a0001c0001t0010
a0001c0001t0014
others(18): Show 
a0001c0001t0003
a0001c0001t0010
a0001c0001t0014
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0041
a0001c0001t0043
a0001c0001t0044
a0001c0001t0046
a0001c0001t0049
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0002t0003
a0001c0002t0024
a0001c0009t0003
a0002c0003t0003
a0002c0003t0051
a0002c0003t0054
a0007c0010t0003
 47 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(44): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01993.hp2
HG02004.hp2
HG02132.hp2
HG02155.hp2
HG02300.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp2
NA18939.hp1
NA18940.hp1
NA18945.hp1
NA18953.hp2
NA18964.hp2
NA18969.hp2
NA18977.hp2
NA18993.hp1
NA19005.hp1
NA19007.hp2
NA19056.hp2
NA19062.hp1
NA19065.hp2
NA19080.hp1
NA19085.hp1
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*11655G>A
c.*11655G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11655 chr17 55171566
chr17:55171717 A
A
 G
G
 3 a0001c0001t0018
a0001c0001t0091
a0001c0001t0097
a0001c0001t0018
a0001c0001t0091
a0001c0001t0097
 6 HG01109.hp1
NA18951.hp2
NA18963.hp1
others(3): Show 
HG01109.hp1
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19058.hp2
 3_prime_UTR_variant MODIFIER c.*11806A>G
c.*11806A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11806 chr17 55171717
chr17:55171781 G
G
 A
A
 3 a0003c0004t0015
a0003c0004t0070
a0003c0004t0076
a0003c0004t0015
a0003c0004t0070
a0003c0004t0076
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*11870G>A
c.*11870G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11870 chr17 55171781
chr17:55171855 AC
AC
 A
A
 8 a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
others(5): Show 
a0001c0001t0004
a0001c0001t0027
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0093
a0001c0002t0004
a0002c0003t0004
 27 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(24): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*11945delC
c.*11945delC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 11945 chr17 55171855
chr17:55172071 A
A
 G
G
 9 a0001c0001t0034
a0001c0001t0058
a0001c0001t0096
others(6): Show 
a0001c0001t0034
a0001c0001t0058
a0001c0001t0096
a0001c0001t0098
a0001c0012t0100
a0002c0003t0084
a0002c0003t0085
a0003c0004t0021
a0009c0008t0021
 10 HG00558.hp2
HG00673.hp2
HG01433.hp1
others(7): Show 
HG00558.hp2
HG00673.hp2
HG01433.hp1
HG02572.hp2
HG02630.hp2
HG02976.hp1
NA18952.hp1
NA18963.hp2
NA18998.hp2
NA19043.hp2
 3_prime_UTR_variant MODIFIER c.*12160A>G
c.*12160A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 12160 chr17 55172071
chr17:55172136 C
C
 T
T
 2 a0001c0001t0103
a0001c0001t0117
a0001c0001t0103
a0001c0001t0117
 2 HG02040.hp2
HG02083.hp2
HG02040.hp2
HG02083.hp2
 3_prime_UTR_variant MODIFIER c.*12225C>T
c.*12225C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 12225 chr17 55172136
chr17:55172287 C
C
 T
T
 1 a0001c0001t0080
a0001c0001t0080
 1 HG03486.hp2
HG03486.hp2
 3_prime_UTR_variant MODIFIER c.*12376C>T
c.*12376C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 12376 chr17 55172287
chr17:55172318 A
A
 G
G
 33 a0001c0001t0006
a0001c0001t0009
a0001c0001t0019
others(30): Show 
a0001c0001t0006
a0001c0001t0009
a0001c0001t0019
a0001c0001t0063
a0001c0001t0064
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0074
a0001c0001t0075
a0001c0001t0080
a0001c0001t0081
a0001c0001t0087
a0001c0001t0090
a0001c0001t0099
a0002c0003t0006
a0002c0003t0011
a0002c0003t0016
a0002c0003t0030
a0002c0003t0065
a0002c0003t0079
a0002c0003t0083
a0002c0003t0086
a0002c0003t0088
a0002c0003t0089
a0003c0004t0015
a0003c0004t0028
a0003c0004t0059
a0003c0004t0066
a0003c0004t0070
a0003c0004t0076
a0003c0004t0077
a0005c0015t0011
 64 HG00099.hp2
HG01070.hp1
HG01071.hp1
others(61): Show 
HG00099.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18522.hp2
NA18612.hp2
NA18978.hp1
NA18982.hp1
NA19030.hp1
NA19067.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*12407A>G
c.*12407A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 12407 chr17 55172318
chr17:55172404 A
A
 C
C
 1 a0001c0001t0073
a0001c0001t0073
 1 HG04228.hp2
HG04228.hp2
 3_prime_UTR_variant MODIFIER c.*12493A>C
c.*12493A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 12493 chr17 55172404
chr17:55172424 G
G
 T
T
 5 a0001c0001t0132
a0003c0004t0013
a0003c0004t0020
others(2): Show 
a0001c0001t0132
a0003c0004t0013
a0003c0004t0020
a0003c0004t0131
a0004c0007t0020
 10 HG02055.hp1
HG02109.hp2
HG02280.hp2
others(7): Show 
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp1
HG02622.hp1
HG02922.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*12513G>T
c.*12513G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 12513 chr17 55172424
chr17:55172619 C
C
 T
T
 1 a0001c0001t0099
a0001c0001t0099
 1 HG03471.hp1
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*12708C>T
c.*12708C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 12708 chr17 55172619
chr17:55172717 A
A
 G
G
 4 a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
others(1): Show 
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0075
 4 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(1): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*12806A>G
c.*12806A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 12806 chr17 55172717
chr17:55173078 C
C
 T
T
 6 a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
others(3): Show 
a0001c0001t0029
a0001c0001t0031
a0001c0001t0033
a0003c0004t0031
a0003c0004t0131
a0003c0006t0094
 8 HG02109.hp2
HG02486.hp1
HG02965.hp1
others(5): Show 
HG02109.hp2
HG02486.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03453.hp2
HG03579.hp1
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*13167C>T
c.*13167C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 13167 chr17 55173078
chr17:55173543 C
C
 A
A
 1 a0001c0001t0073
a0001c0001t0073
 1 HG04228.hp2
HG04228.hp2
 3_prime_UTR_variant MODIFIER c.*13632C>A
c.*13632C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 18/18 13632 chr17 55173543

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
chr17:54968848 C
C
 T
T
 113 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(110): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 114 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(111): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.-157+33C>T
c.-157+33C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54968848
chr17:54968937 C
C
 T
T
 147 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(144): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0003g0211
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0005g0193
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0006c0013t0001g0182
 150 HG00099.hp2
HG00423.hp1
HG00438.hp1
others(147): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-157+122C>T
c.-157+122C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54968937
chr17:54969047 C
C
 G
G
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-157+232C>G
c.-157+232C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969047
chr17:54969086 G
G
 A
A
 146 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0003g0211
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0005g0193
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0006c0013t0001g0182
 149 HG00099.hp2
HG00423.hp1
HG00438.hp1
others(146): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-157+271G>A
c.-157+271G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969086
chr17:54969107 G
G
 A
A
 7 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(4): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0031g0261
a0003c0004t0131g0264
 7 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(4): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.-157+292G>A
c.-157+292G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969107
chr17:54969116 A
A
 G
G
 9 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(6): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0071g0109
a0001c0001t0080g0114
a0001c0001t0081g0108
a0003c0006t0092g0113
 9 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(6): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.-157+301A>G
c.-157+301A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969116
chr17:54969178 G
G
 A
A
 3 a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
 3 HG02280.hp2
HG02630.hp2
HG02965.hp1
HG02280.hp2
HG02630.hp2
HG02965.hp1
 intron_variant MODIFIER c.-157+363G>A
c.-157+363G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969178
chr17:54969196 A
A
 G
G
 1 a0002c0003t0006g0258
a0002c0003t0006g0258
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.-157+381A>G
c.-157+381A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969196
chr17:54969306 C
C
 A
A
 146 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0003g0211
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0005g0193
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0006c0013t0001g0182
 149 HG00099.hp2
HG00423.hp1
HG00438.hp1
others(146): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02976.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-157+491C>A
c.-157+491C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969306
chr17:54969314 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-157+499G>A
c.-157+499G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969314
chr17:54969322 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.-157+507A>G
c.-157+507A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969322
chr17:54969360 G
G
 T
T
 2 a0003c0004t0015g0370
a0003c0004t0076g0371
a0003c0004t0015g0370
a0003c0004t0076g0371
 2 HG01243.hp1
HG03130.hp2
HG01243.hp1
HG03130.hp2
 intron_variant MODIFIER c.-157+545G>T
c.-157+545G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969360
chr17:54969365 C
C
 A
A
 110 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(107): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0116g0287
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
 111 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(108): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.-157+550C>A
c.-157+550C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969365
chr17:54969632 G
G
 A
A
 1 a0001c0001t0010g0270
a0001c0001t0010g0270
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.-157+817G>A
c.-157+817G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969632
chr17:54969774 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-157+959G>A
c.-157+959G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969774
chr17:54969776 G
G
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+961G>A
c.-157+961G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969776
chr17:54969784 C
C
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-157+969C>T
c.-157+969C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969784
chr17:54969841 T
T
 C
C
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.-157+1026T>C
c.-157+1026T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969841
chr17:54969875 A
A
 G
G
 18 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(15): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 18 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(15): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18978.hp2
NA18981.hp1
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.-157+1060A>G
c.-157+1060A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54969875
chr17:54970100 T
T
 C
C
 5 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(2): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0061g0239
a0001c0001t0093g0237
 5 NA18961.hp2
NA19064.hp1
NA19065.hp1
others(2): Show 
NA18961.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
 intron_variant MODIFIER c.-157+1285T>C
c.-157+1285T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970100
chr17:54970138 G
G
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+1323G>A
c.-157+1323G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970138
chr17:54970267 C
C
 T
T
 1 a0001c0001t0001g0235
a0001c0001t0001g0235
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.-157+1452C>T
c.-157+1452C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970267
chr17:54970455 G
G
 T
T
 1 a0001c0001t0017g0369
a0001c0001t0017g0369
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.-157+1640G>T
c.-157+1640G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970455
chr17:54970633 G
G
 A
A
 111 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(108): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 112 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(109): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.-157+1818G>A
c.-157+1818G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970633
chr17:54970666 C
C
 T
T
 111 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(108): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 112 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(109): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.-157+1851C>T
c.-157+1851C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970666
chr17:54970794 C
C
 T
T
 1 a0001c0001t0017g0368
a0001c0001t0017g0368
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.-157+1979C>T
c.-157+1979C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970794
chr17:54970958 A
A
 G
G
 30 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(27): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
 32 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(29): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.-157+2143A>G
c.-157+2143A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970958
chr17:54970964 T
T
 C
C
 1 a0001c0001t0003g0274
a0001c0001t0003g0274
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-157+2149T>C
c.-157+2149T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54970964
chr17:54970981 T
T
 TA
TA
 285 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(282): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 289 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(286): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-157+2169dupA
c.-157+2169dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54970981
chr17:54971081 C
C
 G
G
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+2266C>G
c.-157+2266C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971081
chr17:54971098 T
T
 A
A
 1 a0005c0015t0011g0023
a0005c0015t0011g0023
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.-157+2283T>A
c.-157+2283T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971098
chr17:54971102 A
A
 T
T
 1 a0005c0015t0011g0023
a0005c0015t0011g0023
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.-157+2287A>T
c.-157+2287A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971102
chr17:54971108 T
T
 C
C
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+2293T>C
c.-157+2293T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971108
chr17:54971181 C
C
 G
G
 57 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(54): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
 59 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(56): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+2366C>G
c.-157+2366C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971181
chr17:54971280 T
T
 A
A
 1 a0005c0015t0011g0023
a0005c0015t0011g0023
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.-157+2465T>A
c.-157+2465T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971280
chr17:54971346 A
A
 G
G
 1 a0003c0004t0015g0367
a0003c0004t0015g0367
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-157+2531A>G
c.-157+2531A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971346
chr17:54971399 G
G
 T
T
 3 a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
 3 HG02280.hp2
HG02630.hp2
HG02965.hp1
HG02280.hp2
HG02630.hp2
HG02965.hp1
 intron_variant MODIFIER c.-157+2584G>T
c.-157+2584G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971399
chr17:54971417 A
A
 G
G
 1 a0001c0001t0098g0257
a0001c0001t0098g0257
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.-157+2602A>G
c.-157+2602A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971417
chr17:54971561 T
T
 C
C
 3 a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
 3 HG02280.hp2
HG02630.hp2
HG02965.hp1
HG02280.hp2
HG02630.hp2
HG02965.hp1
 intron_variant MODIFIER c.-157+2746T>C
c.-157+2746T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971561
chr17:54971563 G
G
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+2748G>A
c.-157+2748G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971563
chr17:54971783 T
T
 TTTTTTAT
others(5): Show 
TTTTTTATTTTTA
 3 a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
 3 HG02280.hp2
HG02630.hp2
HG02965.hp1
HG02280.hp2
HG02630.hp2
HG02965.hp1
 intron_variant MODIFIER c.-157+2986_-157+299
others(16): Show 
c.-157+2986_-157+2997dupATTTTTATTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54971783
chr17:54971885 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-157+3070A>G
c.-157+3070A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971885
chr17:54971969 G
G
 A
A
 1 a0001c0001t0012g0149
a0001c0001t0012g0149
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.-157+3154G>A
c.-157+3154G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54971969
chr17:54972075 C
C
 T
T
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.-157+3260C>T
c.-157+3260C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972075
chr17:54972104 C
C
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-157+3289C>T
c.-157+3289C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972104
chr17:54972105 G
G
 A
A
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.-157+3290G>A
c.-157+3290G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972105
chr17:54972169 G
G
 A
A
 4 a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0119g0148
others(1): Show 
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0119g0148
a0001c0001t0122g0150
 4 NA18977.hp1
NA19011.hp1
NA19075.hp1
others(1): Show 
NA18977.hp1
NA19011.hp1
NA19075.hp1
NA19080.hp2
 intron_variant MODIFIER c.-157+3354G>A
c.-157+3354G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972169
chr17:54972508 T
T
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+3693T>A
c.-157+3693T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972508
chr17:54972626 T
T
 C
C
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+3811T>C
c.-157+3811T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972626
chr17:54972664 C
C
 T
T
 209 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0274
others(206): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 212 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(209): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-157+3849C>T
c.-157+3849C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972664
chr17:54972722 A
A
 G
G
 113 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(110): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0003g0211
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0005g0193
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0006c0013t0001g0182
 114 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(111): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-157+3907A>G
c.-157+3907A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972722
chr17:54972729 G
G
 C
C
 2 a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0005t0005g0024
a0001c0005t0005g0025
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.-157+3914G>C
c.-157+3914G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972729
chr17:54972735 A
A
 T
T
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-157+3920A>T
c.-157+3920A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972735
chr17:54972761 C
C
 T
T
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-157+3946C>T
c.-157+3946C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972761
chr17:54972772 T
T
 G
G
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+3957T>G
c.-157+3957T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54972772
chr17:54973113 A
A
 G
G
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.-157+4298A>G
c.-157+4298A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54973113
chr17:54973140 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-157+4325A>G
c.-157+4325A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54973140
chr17:54973143 C
C
 T
T
 18 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(15): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 18 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(15): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18978.hp2
NA18981.hp1
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.-157+4328C>T
c.-157+4328C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54973143
chr17:54973364 C
C
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-157+4549C>A
c.-157+4549C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54973364
chr17:54973522 A
A
 G
G
 1 a0002c0003t0016g0004
a0002c0003t0016g0004
 2 HG01928.hp1
HG01993.hp1
HG01928.hp1
HG01993.hp1
 intron_variant MODIFIER c.-157+4707A>G
c.-157+4707A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54973522
chr17:54973557 G
G
 A
A
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.-157+4742G>A
c.-157+4742G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54973557
chr17:54973978 T
T
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-157+5163T>G
c.-157+5163T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54973978
chr17:54974173 G
G
 A
A
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.-157+5358G>A
c.-157+5358G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54974173
chr17:54974267 T
T
 A
A
 1 a0001c0001t0018g0221
a0001c0001t0018g0221
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.-157+5452T>A
c.-157+5452T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54974267
chr17:54974570 A
A
 G
G
 2 a0001c0002t0001g0106
a0001c0002t0002g0107
a0001c0002t0001g0106
a0001c0002t0002g0107
 2 NA18955.hp2
NA19054.hp2
NA18955.hp2
NA19054.hp2
 intron_variant MODIFIER c.-157+5755A>G
c.-157+5755A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54974570
chr17:54974617 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.-157+5802G>A
c.-157+5802G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54974617
chr17:54974641 T
T
 C
C
 229 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(226): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0094g0022
a0006c0013t0001g0182
a0007c0010t0003g0298
a0009c0008t0021g0267
 231 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(228): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-157+5826T>C
c.-157+5826T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54974641
chr17:54974655 T
T
 C
C
 1 a0001c0002t0002g0030
a0001c0002t0002g0030
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-157+5840T>C
c.-157+5840T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54974655
chr17:54974840 CAA
CAA
 C
C
 289 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(286): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 293 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(290): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-157+6027_-157+602
others(6): Show 
c.-157+6027_-157+6028delAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54974840
chr17:54974918 G
G
 A
A
 1 a0001c0001t0003g0280
a0001c0001t0003g0280
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.-157+6103G>A
c.-157+6103G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54974918
chr17:54975207 C
C
 T
T
 33 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(30): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
 35 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(32): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.-157+6392C>T
c.-157+6392C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975207
chr17:54975219 A
A
 G
G
 1 a0001c0001t0001g0220
a0001c0001t0001g0220
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.-157+6404A>G
c.-157+6404A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975219
chr17:54975268 A
A
 G
G
 89 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(86): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0003g0211
a0001c0001t0005g0193
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0011t0001g0156
a0006c0013t0001g0182
 90 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(87): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp2
NA18952.hp2
NA18957.hp2
NA18963.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-157+6453A>G
c.-157+6453A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975268
chr17:54975286 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.-157+6471C>T
c.-157+6471C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975286
chr17:54975292 C
C
 G
G
 3 a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
 3 HG02976.hp2
HG03471.hp2
NA19030.hp2
HG02976.hp2
HG03471.hp2
NA19030.hp2
 intron_variant MODIFIER c.-157+6477C>G
c.-157+6477C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975292
chr17:54975423 T
T
 C
C
 1 a0002c0003t0065g0121
a0002c0003t0065g0121
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-157+6608T>C
c.-157+6608T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975423
chr17:54975450 A
A
 G
G
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.-157+6635A>G
c.-157+6635A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975450
chr17:54975470 G
G
 C
C
 1 a0001c0001t0097g0222
a0001c0001t0097g0222
 1 NA19006.hp2
NA19006.hp2
 intron_variant MODIFIER c.-157+6655G>C
c.-157+6655G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975470
chr17:54975949 G
G
 A
A
 3 a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
a0001c0001t0031g0269
a0001c0001t0132g0268
a0009c0008t0021g0267
 3 HG02280.hp2
HG02630.hp2
HG02965.hp1
HG02280.hp2
HG02630.hp2
HG02965.hp1
 intron_variant MODIFIER c.-157+7134G>A
c.-157+7134G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54975949
chr17:54976018 T
T
 G
G
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+7203T>G
c.-157+7203T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976018
chr17:54976074 A
A
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.-157+7259A>G
c.-157+7259A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976074
chr17:54976122 T
T
 C
C
 1 a0001c0001t0134g0233
a0001c0001t0134g0233
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.-157+7307T>C
c.-157+7307T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976122
chr17:54976141 A
A
 C
C
 1 a0001c0001t0047g0366
a0001c0001t0047g0366
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.-157+7326A>C
c.-157+7326A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976141
chr17:54976173 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-157+7358G>A
c.-157+7358G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976173
chr17:54976243 A
A
 G
G
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0003c0006t0092g0113
 23 HG02257.hp2
HG02559.hp2
HG02717.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+7428A>G
c.-157+7428A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976243
chr17:54976458 C
C
 G
G
 2 a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0005g0104
a0001c0002t0005g0105
 2 HG01106.hp2
HG02148.hp2
HG01106.hp2
HG02148.hp2
 intron_variant MODIFIER c.-157+7643C>G
c.-157+7643C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976458
chr17:54976587 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-157+7772C>T
c.-157+7772C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976587
chr17:54976916 A
A
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-157+8101A>C
c.-157+8101A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976916
chr17:54976941 C
C
 G
G
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-157+8126C>G
c.-157+8126C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54976941
chr17:54977006 C
C
 G
G
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+8191C>G
c.-157+8191C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977006
chr17:54977041 G
G
 A
A
 3 a0001c0001t0001g0155
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0001g0155
a0001c0001t0036g0153
a0001c0001t0036g0154
 3 HG00423.hp1
NA18957.hp2
NA19085.hp2
HG00423.hp1
NA18957.hp2
NA19085.hp2
 intron_variant MODIFIER c.-157+8226G>A
c.-157+8226G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977041
chr17:54977087 C
C
 A
A
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.-157+8272C>A
c.-157+8272C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977087
chr17:54977136 T
T
 C
C
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-157+8321T>C
c.-157+8321T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977136
chr17:54977185 G
G
 A
A
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0134g0233
 37 HG00673.hp1
HG00673.hp2
HG01109.hp1
others(34): Show 
HG00673.hp1
HG00673.hp2
HG01109.hp1
HG01433.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.-157+8370G>A
c.-157+8370G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977185
chr17:54977336 G
G
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-8278G>A
c.-156-8278G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977336
chr17:54977383 T
T
 C
C
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.-156-8231T>C
c.-156-8231T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977383
chr17:54977388 A
A
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-8226A>T
c.-156-8226A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977388
chr17:54977430 G
G
 A
A
 111 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(108): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 112 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(109): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.-156-8184G>A
c.-156-8184G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977430
chr17:54977589 A
A
 G
G
 1 a0001c0001t0004g0253
a0001c0001t0004g0253
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.-156-8025A>G
c.-156-8025A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977589
chr17:54977885 A
A
 T
T
 57 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(54): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
 59 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(56): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-7729A>T
c.-156-7729A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977885
chr17:54977938 G
G
 C
C
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.-156-7676G>C
c.-156-7676G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54977938
chr17:54978133 T
T
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-156-7481T>C
c.-156-7481T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54978133
chr17:54978162 C
C
 G
G
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-156-7452C>G
c.-156-7452C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54978162
chr17:54978342 T
T
 TATATGTA
others(7): Show 
TATATGTACTATGTA
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-7259_-156-724
others(18): Show 
c.-156-7259_-156-7246dupTAATATGTACTATG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54978342
chr17:54978581 G
G
 A
A
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.-156-7033G>A
c.-156-7033G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54978581
chr17:54978726 CTTG
CTTG
 C
C
 3 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
 3 NA18970.hp1
NA19074.hp1
NA19081.hp2
NA18970.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.-156-6883_-156-688
others(7): Show 
c.-156-6883_-156-6881delTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54978726
chr17:54978957 A
A
 T
T
 2 a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0016g0004
a0002c0003t0016g0147
 3 HG01928.hp1
HG01993.hp1
HG02273.hp2
HG01928.hp1
HG01993.hp1
HG02273.hp2
 intron_variant MODIFIER c.-156-6657A>T
c.-156-6657A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54978957
chr17:54979110 G
G
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-6504G>A
c.-156-6504G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54979110
chr17:54979506 C
C
 G
G
 1 a0002c0003t0086g0146
a0002c0003t0086g0146
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.-156-6108C>G
c.-156-6108C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54979506
chr17:54979538 A
A
 G
G
 5 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
others(2): Show 
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 intron_variant MODIFIER c.-156-6076A>G
c.-156-6076A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54979538
chr17:54979613 C
C
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.-156-6001C>T
c.-156-6001C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54979613
chr17:54979614 A
A
 G
G
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-6000A>G
c.-156-6000A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54979614
chr17:54979956 A
A
 G
G
 1 a0001c0001t0004g0240
a0001c0001t0004g0240
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.-156-5658A>G
c.-156-5658A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54979956
chr17:54979960 T
T
 C
C
 1 a0001c0001t0046g0281
a0001c0001t0046g0281
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.-156-5654T>C
c.-156-5654T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54979960
chr17:54980007 A
A
 G
G
 1 a0001c0001t0001g0219
a0001c0001t0001g0219
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.-156-5607A>G
c.-156-5607A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980007
chr17:54980030 C
C
 CTA
CTA
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-5583_-156-558
others(6): Show 
c.-156-5583_-156-5582insAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54980030
chr17:54980354 G
G
 A
A
 209 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0274
others(206): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 212 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(209): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-156-5260G>A
c.-156-5260G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980354
chr17:54980367 C
C
 T
T
 1 a0001c0001t0080g0114
a0001c0001t0080g0114
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.-156-5247C>T
c.-156-5247C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980367
chr17:54980386 C
C
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-5228C>T
c.-156-5228C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980386
chr17:54980403 A
A
 G
G
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-156-5211A>G
c.-156-5211A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980403
chr17:54980403 A
A
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-5211A>T
c.-156-5211A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980403
chr17:54980504 A
A
 G
G
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-5110A>G
c.-156-5110A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980504
chr17:54980532 C
C
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-5082C>T
c.-156-5082C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980532
chr17:54980553 G
G
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-5061G>A
c.-156-5061G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980553
chr17:54980841 A
A
 G
G
 110 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(107): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 111 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(108): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.-156-4773A>G
c.-156-4773A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980841
chr17:54980935 G
G
 GT
GT
 41 a0001c0001t0001g0218
a0001c0001t0002g0344
a0001c0001t0007g0348
others(38): Show 
a0001c0001t0001g0218
a0001c0001t0002g0344
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0014g0336
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0042g0355
a0001c0001t0045g0350
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0050g0360
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0108g0097
a0001c0012t0100g0275
 41 HG01168.hp1
HG01175.hp1
HG01261.hp1
others(38): Show 
HG01168.hp1
HG01175.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG02004.hp1
HG02109.hp1
HG02145.hp1
HG02165.hp1
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03834.hp1
HG04184.hp1
HG06807.hp2
NA18941.hp1
NA18946.hp1
NA18955.hp1
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18983.hp1
NA18991.hp2
NA19004.hp1
NA19006.hp1
NA19009.hp1
NA19056.hp2
NA19057.hp1
NA19063.hp1
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.-156-4669dupT
c.-156-4669dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54980935
chr17:54980935 GT
GT
 G
G
 61 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(58): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0001c0011t0001g0156
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 63 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(60): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18964.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-4669delT
c.-156-4669delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54980935
chr17:54980943 T
T
 G
G
 1 a0001c0001t0130g0027
a0001c0001t0130g0027
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-156-4671T>G
c.-156-4671T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980943
chr17:54980943 T
T
 TG
TG
 52 a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
others(49): Show 
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0017g0288
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0041g0293
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0046g0281
a0001c0001t0049g0310
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0116g0287
a0001c0009t0003g0297
a0002c0003t0003g0286
a0007c0010t0003g0298
 53 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(50): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02132.hp2
HG02148.hp1
HG02300.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp2
NA18939.hp1
NA18940.hp1
NA18945.hp1
NA18953.hp2
NA18968.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp2
NA19056.hp1
NA19062.hp1
NA19065.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
 intron_variant MODIFIER c.-156-4671_-156-467
others(5): Show 
c.-156-4671_-156-4670insG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54980943
chr17:54981173 T
T
 TA
TA
 285 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(282): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 289 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(286): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-156-4440dupA
c.-156-4440dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54981173
chr17:54981315 A
A
 G
G
 61 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(58): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 63 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(60): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-4299A>G
c.-156-4299A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981315
chr17:54981321 G
G
 A
A
 19 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(16): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
a0008c0014t0133g0008
 19 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(16): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02818.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18978.hp2
NA18981.hp1
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.-156-4293G>A
c.-156-4293G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981321
chr17:54981377 A
A
 G
G
 285 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(282): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 289 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(286): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-156-4237A>G
c.-156-4237A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981377
chr17:54981446 G
G
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-4168G>T
c.-156-4168G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981446
chr17:54981483 A
A
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-156-4131A>G
c.-156-4131A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981483
chr17:54981498 T
T
 C
C
 2 a0001c0001t0103g0157
a0001c0001t0117g0158
a0001c0001t0103g0157
a0001c0001t0117g0158
 2 HG02040.hp2
HG02083.hp2
HG02040.hp2
HG02083.hp2
 intron_variant MODIFIER c.-156-4116T>C
c.-156-4116T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981498
chr17:54981511 G
G
 A
A
 1 a0001c0001t0010g0282
a0001c0001t0010g0282
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.-156-4103G>A
c.-156-4103G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981511
chr17:54981646 A
A
 G
G
 36 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(33): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 38 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(35): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02615.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.-156-3968A>G
c.-156-3968A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981646
chr17:54981699 A
A
 G
G
 1 a0001c0001t0003g0328
a0001c0001t0003g0328
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.-156-3915A>G
c.-156-3915A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981699
chr17:54981700 T
T
 TA
TA
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-3912dupA
c.-156-3912dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54981700
chr17:54981721 T
T
 C
C
 336 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0125g0042
a0001c0002t0128g0057
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 342 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(339): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.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
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.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
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-156-3893T>C
c.-156-3893T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981721
chr17:54981722 G
G
 A
A
 2 a0001c0001t0004g0241
a0001c0001t0099g0021
a0001c0001t0004g0241
a0001c0001t0099g0021
 2 HG03471.hp1
NA18992.hp2
HG03471.hp1
NA18992.hp2
 intron_variant MODIFIER c.-156-3892G>A
c.-156-3892G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981722
chr17:54981769 G
G
 T
T
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-156-3845G>T
c.-156-3845G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981769
chr17:54981826 C
C
 T
T
 2 a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0326
a0001c0001t0003g0327
 2 HG00621.hp1
NA18945.hp1
HG00621.hp1
NA18945.hp1
 intron_variant MODIFIER c.-156-3788C>T
c.-156-3788C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981826
chr17:54981846 C
C
 T
T
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.-156-3768C>T
c.-156-3768C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981846
chr17:54981934 T
T
 C
C
 1 a0001c0001t0081g0108
a0001c0001t0081g0108
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-156-3680T>C
c.-156-3680T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54981934
chr17:54982000 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-156-3614G>A
c.-156-3614G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54982000
chr17:54982134 CATTAA
CATTAA
 C
C
 9 a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
others(6): Show 
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0022g0358
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0042g0355
a0001c0001t0050g0360
 9 HG02109.hp1
HG02451.hp1
HG02615.hp2
others(6): Show 
HG02109.hp1
HG02451.hp1
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.-156-3474_-156-347
others(9): Show 
c.-156-3474_-156-3470delATTAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54982134
chr17:54982414 T
T
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-3200T>A
c.-156-3200T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54982414
chr17:54982415 A
A
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-3199A>T
c.-156-3199A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54982415
chr17:54982502 A
A
 G
G
 1 a0001c0001t0004g0325
a0001c0001t0004g0325
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.-156-3112A>G
c.-156-3112A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54982502
chr17:54982594 T
T
 TTG
TTG
 80 a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
others(77): Show 
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0061g0239
a0001c0001t0063g0040
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0005c0015t0011g0023
 82 HG00621.hp2
HG00639.hp1
HG00642.hp2
others(79): Show 
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01169.hp1
HG01258.hp1
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18963.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp1
 intron_variant MODIFIER c.-156-2989_-156-298
others(6): Show 
c.-156-2989_-156-2988dupTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54982594
chr17:54982594 T
T
 TTGTG
TTGTG
 7 a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0100
others(4): Show 
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0024g0071
 7 HG00280.hp1
HG01168.hp1
HG01261.hp1
others(4): Show 
HG00280.hp1
HG01168.hp1
HG01261.hp1
HG02698.hp2
NA18964.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-156-2991_-156-298
others(8): Show 
c.-156-2991_-156-2988dupTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54982594
chr17:54982594 TTG
TTG
 T
T
 193 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(190): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0060g0242
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0011t0001g0156
a0002c0003t0003g0286
a0003c0004t0021g0331
a0003c0006t0094g0022
a0006c0013t0001g0182
a0007c0010t0003g0298
 195 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(192): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-156-2989_-156-298
others(6): Show 
c.-156-2989_-156-2988delTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54982594
chr17:54982594 TTGTG
TTGTG
 T
T
 25 a0001c0001t0095g0329
a0001c0001t0099g0021
a0001c0001t0114g0026
others(22): Show 
a0001c0001t0095g0329
a0001c0001t0099g0021
a0001c0001t0114g0026
a0002c0003t0006g0145
a0002c0003t0065g0121
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 25 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(22): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03471.hp1
HG03540.hp1
HG03540.hp2
HG04199.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.-156-2991_-156-298
others(8): Show 
c.-156-2991_-156-2988delTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54982594
chr17:54982594 TTGTGTG
TTGTGTG
 T
T
 55 a0001c0001t0003g0283
a0001c0001t0009g0017
a0001c0001t0009g0018
others(52): Show 
a0001c0001t0003g0283
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
 57 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(54): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG01993.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-2993_-156-298
others(10): Show 
c.-156-2993_-156-2988delTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54982594
chr17:54982594 TTGTGTGT
others(3): Show 
TTGTGTGTGTG
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.-156-2997_-156-298
others(14): Show 
c.-156-2997_-156-2988delTGTGTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54982594
chr17:54982672 C
C
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-2942C>T
c.-156-2942C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54982672
chr17:54982748 T
T
 C
C
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.-156-2866T>C
c.-156-2866T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54982748
chr17:54982853 C
C
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-2761C>T
c.-156-2761C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54982853
chr17:54982968 G
G
 A
A
 61 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(58): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 63 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(60): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-2646G>A
c.-156-2646G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54982968
chr17:54983467 AC
AC
 A
A
 20 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(17): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
 20 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(17): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02622.hp1
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.-156-2146delC
c.-156-2146delC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54983467
chr17:54983607 A
A
 ATTTCT
ATTTCT
 281 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(278): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0006c0013t0001g0182
a0007c0010t0003g0298
a0009c0008t0021g0267
 285 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(282): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-156-1998_-156-199
others(9): Show 
c.-156-1998_-156-1994dupCTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54983607
chr17:54983658 A
A
 G
G
 1 a0002c0003t0006g0144
a0002c0003t0006g0144
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.-156-1956A>G
c.-156-1956A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54983658
chr17:54983714 G
G
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-1900G>A
c.-156-1900G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54983714
chr17:54983812 T
T
 C
C
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.-156-1802T>C
c.-156-1802T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54983812
chr17:54983848 C
C
 T
T
 1 a0001c0001t0017g0351
a0001c0001t0017g0351
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.-156-1766C>T
c.-156-1766C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54983848
chr17:54983861 A
A
 C
C
 1 a0002c0003t0086g0146
a0002c0003t0086g0146
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.-156-1753A>C
c.-156-1753A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54983861
chr17:54983880 T
T
 A
A
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-156-1734T>A
c.-156-1734T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54983880
chr17:54984048 T
T
 C
C
 1 a0004c0007t0020g0009
a0004c0007t0020g0009
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.-156-1566T>C
c.-156-1566T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984048
chr17:54984261 T
T
 C
C
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-1353T>C
c.-156-1353T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984261
chr17:54984332 C
C
 A
A
 1 a0001c0001t0008g0332
a0001c0001t0008g0332
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.-156-1282C>A
c.-156-1282C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984332
chr17:54984334 TTTTTC
TTTTTC
 T
T
 31 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(28): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
 33 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(30): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.-156-1275_-156-127
others(9): Show 
c.-156-1275_-156-1271delCTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54984334
chr17:54984335 TTTTC
TTTTC
 T
T
 24 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(21): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0011g0142
a0002c0003t0089g0143
a0003c0006t0092g0113
 24 HG01175.hp2
HG02257.hp2
HG02559.hp2
others(21): Show 
HG01175.hp2
HG02257.hp2
HG02559.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG04115.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-1275_-156-127
others(8): Show 
c.-156-1275_-156-1272delCTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54984335
chr17:54984339 C
C
 CT
CT
 11 a0001c0001t0001g0216
a0001c0001t0003g0274
a0001c0001t0003g0321
others(8): Show 
a0001c0001t0001g0216
a0001c0001t0003g0274
a0001c0001t0003g0321
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0010g0320
a0001c0001t0044g0319
a0001c0001t0046g0281
a0001c0001t0127g0215
a0001c0002t0002g0070
a0003c0006t0094g0022
 11 HG00621.hp2
HG02486.hp1
HG02602.hp1
others(8): Show 
HG00621.hp2
HG02486.hp1
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG04115.hp2
HG04199.hp2
NA18940.hp2
NA18975.hp1
NA19000.hp1
NA19064.hp2
 intron_variant MODIFIER c.-156-1254dupT
c.-156-1254dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54984339
chr17:54984339 CT
CT
 C
C
 50 a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0243
others(47): Show 
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0008g0333
a0001c0001t0008g0352
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0017g0368
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0119g0148
a0001c0001t0134g0233
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0005g0100
a0001c0002t0039g0032
a0001c0002t0110g0033
a0009c0008t0021g0267
 50 HG00639.hp2
HG00673.hp1
HG00673.hp2
others(47): Show 
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG01081.hp1
HG01109.hp1
HG01433.hp1
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
HG04228.hp2
NA18942.hp2
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19075.hp1
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19086.hp1
 intron_variant MODIFIER c.-156-1254delT
c.-156-1254delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54984339
chr17:54984339 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 20 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(17): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
 20 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(17): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02622.hp1
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.-156-1263_-156-125
others(14): Show 
c.-156-1263_-156-1254delTTTTTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54984339
chr17:54984340 T
T
 C
C
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.-156-1274T>C
c.-156-1274T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984340
chr17:54984341 T
T
 C
C
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.-156-1273T>C
c.-156-1273T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984341
chr17:54984344 T
T
 C
C
 1 a0001c0001t0004g0253
a0001c0001t0004g0253
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.-156-1270T>C
c.-156-1270T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984344
chr17:54984345 T
T
 C
C
 35 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(32): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0134g0233
 35 HG00673.hp1
HG00673.hp2
HG01109.hp1
others(32): Show 
HG00673.hp1
HG00673.hp2
HG01109.hp1
HG01433.hp1
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
 intron_variant MODIFIER c.-156-1269T>C
c.-156-1269T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984345
chr17:54984346 T
T
 C
C
 1 a0001c0001t0004g0252
a0001c0001t0004g0252
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.-156-1268T>C
c.-156-1268T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984346
chr17:54984366 G
G
 A
A
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-156-1248G>A
c.-156-1248G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984366
chr17:54984435 C
C
 T
T
 1 a0001c0001t0130g0027
a0001c0001t0130g0027
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.-156-1179C>T
c.-156-1179C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984435
chr17:54984443 C
C
 T
T
 2 a0004c0007t0020g0009
a0004c0007t0020g0010
a0004c0007t0020g0009
a0004c0007t0020g0010
 2 HG02615.hp1
HG02922.hp2
HG02615.hp1
HG02922.hp2
 intron_variant MODIFIER c.-156-1171C>T
c.-156-1171C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984443
chr17:54984534 G
G
 A
A
 2 a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0039g0032
a0001c0002t0039g0037
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 intron_variant MODIFIER c.-156-1080G>A
c.-156-1080G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984534
chr17:54984589 C
C
 T
T
 1 a0002c0003t0089g0143
a0002c0003t0089g0143
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-156-1025C>T
c.-156-1025C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984589
chr17:54984590 G
G
 A
A
 86 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(83): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0116g0287
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 87 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(84): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01175.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.-156-1024G>A
c.-156-1024G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984590
chr17:54984611 A
A
 G
G
 1 a0001c0001t0045g0350
a0001c0001t0045g0350
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-156-1003A>G
c.-156-1003A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984611
chr17:54984632 C
C
 T
T
 3 a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 3 HG02257.hp2
NA18522.hp2
NA19030.hp1
HG02257.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-156-982C>T
c.-156-982C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984632
chr17:54984638 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-156-976C>T
c.-156-976C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984638
chr17:54984819 A
A
 G
G
 113 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(110): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0003g0211
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0005g0193
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0006c0013t0001g0182
 114 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(111): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-156-795A>G
c.-156-795A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984819
chr17:54984864 C
C
 A
A
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.-156-750C>A
c.-156-750C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984864
chr17:54984865 A
A
 AAAAAAAA
others(43): Show 
AAAAAAAAAAAAATAATTAATAAAGAAATAAAAAATATAATTTACAAAAA
T
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.-156-749_-156-748i
others(52): Show 
c.-156-749_-156-748insAAAAAAAAAAAATAATTAATAAAGAAAT
AAAAAATATAATTTACAAAAAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984865
chr17:54984866 C
C
 A
A
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.-156-748C>A
c.-156-748C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984866
chr17:54984867 C
C
 A
A
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.-156-747C>A
c.-156-747C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984867
chr17:54984868 C
C
 T
T
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.-156-746C>T
c.-156-746C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984868
chr17:54984869 C
C
 A
A
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.-156-745C>A
c.-156-745C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984869
chr17:54984871 C
C
 A
A
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.-156-743C>A
c.-156-743C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984871
chr17:54984874 T
T
 A
A
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.-156-740T>A
c.-156-740T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984874
chr17:54984904 T
T
 TA
TA
 111 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(108): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 112 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(109): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.-156-709dupA
c.-156-709dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 INFO_REALIGN_3_PRIME chr17 54984904
chr17:54984936 C
C
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.-156-678C>A
c.-156-678C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54984936
chr17:54985044 G
G
 A
A
 4 a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
others(1): Show 
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0090g0012
 4 HG02809.hp2
HG02922.hp1
HG02970.hp2
others(1): Show 
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
 intron_variant MODIFIER c.-156-570G>A
c.-156-570G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54985044
chr17:54985157 G
G
 A
A
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.-156-457G>A
c.-156-457G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54985157
chr17:54985192 G
G
 A
A
 209 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0274
others(206): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 212 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(209): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-156-422G>A
c.-156-422G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54985192
chr17:54985248 A
A
 G
G
 18 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(15): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 18 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(15): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18978.hp2
NA18981.hp1
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.-156-366A>G
c.-156-366A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54985248
chr17:54985269 G
G
 A
A
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0003c0006t0092g0113
 23 HG02257.hp2
HG02559.hp2
HG02717.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-345G>A
c.-156-345G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54985269
chr17:54985361 A
A
 G
G
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.-156-253A>G
c.-156-253A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54985361
chr17:54985394 C
C
 G
G
 33 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(30): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
 35 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(32): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.-156-220C>G
c.-156-220C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54985394
chr17:54985542 C
C
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.-156-72C>A
c.-156-72C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 1/17 chr17 54985542
chr17:54985758 G
G
 A
A
 5 a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
others(2): Show 
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0060g0242
a0001c0001t0090g0012
 5 HG02809.hp2
HG02922.hp1
HG02970.hp2
others(2): Show 
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
NA18981.hp1
 intron_variant MODIFIER c.-79+67G>A
c.-79+67G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 2/17 chr17 54985758
chr17:54985844 T
T
 G
G
 4 a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
others(1): Show 
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0002c0003t0088g0125
 4 HG01109.hp2
HG01123.hp2
HG01517.hp2
others(1): Show 
HG01109.hp2
HG01123.hp2
HG01517.hp2
HG02055.hp2
 intron_variant MODIFIER c.-79+153T>G
c.-79+153T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 2/17 chr17 54985844
chr17:54985976 T
T
 A
A
 1 a0001c0002t0008g0038
a0001c0002t0008g0038
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.-78-166T>A
c.-78-166T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 2/17 chr17 54985976
chr17:54986360 C
C
 G
G
 9 a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0064
others(6): Show 
a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0069
a0001c0002t0024g0071
 10 NA18945.hp2
NA18964.hp2
NA18969.hp2
others(7): Show 
NA18945.hp2
NA18964.hp2
NA18969.hp2
NA18982.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19060.hp2
NA19063.hp2
 intron_variant MODIFIER c.47+94C>G
c.47+94C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54986360
chr17:54986382 C
C
 T
T
 356 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(353): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0128g0057
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 362 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(359): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.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
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
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.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
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.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
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.47+116C>T
c.47+116C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54986382
chr17:54986405 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.47+139A>G
c.47+139A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54986405
chr17:54986831 A
A
 G
G
 2 a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0053g0324
a0001c0001t0055g0323
 2 HG00280.hp2
HG03704.hp1
HG00280.hp2
HG03704.hp1
 intron_variant MODIFIER c.47+565A>G
c.47+565A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54986831
chr17:54987189 C
C
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.47+923C>T
c.47+923C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54987189
chr17:54987233 G
G
 A
A
 1 a0001c0001t0007g0213
a0001c0001t0007g0213
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.47+967G>A
c.47+967G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54987233
chr17:54987276 A
A
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.47+1010A>C
c.47+1010A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54987276
chr17:54987293 G
G
 T
T
 2 a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0002t0003g0069
a0001c0002t0024g0071
 2 NA18964.hp2
NA18969.hp2
NA18964.hp2
NA18969.hp2
 intron_variant MODIFIER c.47+1027G>T
c.47+1027G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54987293
chr17:54987586 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.47+1320A>G
c.47+1320A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54987586
chr17:54987603 T
T
 C
C
 5 a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
others(2): Show 
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0104g0077
 5 HG00280.hp1
HG00642.hp2
HG01123.hp1
others(2): Show 
HG00280.hp1
HG00642.hp2
HG01123.hp1
HG01169.hp1
HG01517.hp1
 intron_variant MODIFIER c.47+1337T>C
c.47+1337T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54987603
chr17:54987613 A
A
 T
T
 1 a0002c0003t0030g0128
a0002c0003t0030g0128
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.47+1347A>T
c.47+1347A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54987613
chr17:54988073 A
A
 G
G
 9 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(6): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0064g0016
a0001c0001t0090g0012
 9 HG02257.hp2
HG02717.hp1
HG02809.hp2
others(6): Show 
HG02257.hp2
HG02717.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.47+1807A>G
c.47+1807A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988073
chr17:54988081 A
A
 G
G
 1 a0001c0001t0003g0318
a0001c0001t0003g0318
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.47+1815A>G
c.47+1815A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988081
chr17:54988238 G
G
 A
A
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.47+1972G>A
c.47+1972G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988238
chr17:54988310 C
C
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.47+2044C>A
c.47+2044C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988310
chr17:54988446 C
C
 T
T
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.47+2180C>T
c.47+2180C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988446
chr17:54988465 T
T
 G
G
 1 a0001c0001t0010g0270
a0001c0001t0010g0270
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.47+2199T>G
c.47+2199T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988465
chr17:54988472 C
C
 A
A
 1 a0001c0001t0010g0270
a0001c0001t0010g0270
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.47+2206C>A
c.47+2206C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988472
chr17:54988485 A
A
 G
G
 285 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(282): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 289 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(286): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.47+2219A>G
c.47+2219A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988485
chr17:54988545 G
G
 A
A
 113 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(110): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0003g0211
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0005g0193
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0006c0013t0001g0182
 114 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(111): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.47+2279G>A
c.47+2279G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988545
chr17:54988562 T
T
 C
C
 1 a0001c0001t0010g0270
a0001c0001t0010g0270
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.48-2263T>C
c.48-2263T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988562
chr17:54988571 C
C
 T
T
 111 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(108): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 112 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(109): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.48-2254C>T
c.48-2254C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988571
chr17:54988593 G
G
 C
C
 1 a0001c0001t0007g0162
a0001c0001t0007g0162
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.48-2232G>C
c.48-2232G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988593
chr17:54988768 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.48-2057C>T
c.48-2057C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988768
chr17:54988818 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.48-2007G>A
c.48-2007G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988818
chr17:54988828 T
T
 C
C
 86 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(83): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0116g0287
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 87 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(84): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01175.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.48-1997T>C
c.48-1997T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988828
chr17:54988878 C
C
 T
T
 1 a0001c0001t0057g0317
a0001c0001t0057g0317
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.48-1947C>T
c.48-1947C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988878
chr17:54988966 T
T
 C
C
 3 a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0011t0001g0156
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0011t0001g0156
 3 HG00558.hp1
NA18964.hp1
NA19057.hp2
HG00558.hp1
NA18964.hp1
NA19057.hp2
 intron_variant MODIFIER c.48-1859T>C
c.48-1859T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54988966
chr17:54989001 G
G
 T
T
 2 a0002c0003t0006g0119
a0002c0003t0011g0120
a0002c0003t0006g0119
a0002c0003t0011g0120
 2 HG02886.hp2
HG03139.hp2
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.48-1824G>T
c.48-1824G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54989001
chr17:54989036 G
G
 C
C
 1 a0001c0002t0002g0039
a0001c0002t0002g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.48-1789G>C
c.48-1789G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54989036
chr17:54989138 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.48-1687C>T
c.48-1687C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54989138
chr17:54989184 A
A
 T
T
 64 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(61): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0098g0257
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 66 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(63): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18963.hp2
NA18970.hp1
NA18978.hp1
NA18998.hp2
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.48-1641A>T
c.48-1641A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54989184
chr17:54989248 T
T
 C
C
 176 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(173): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0095g0329
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 179 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(176): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18952.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.48-1577T>C
c.48-1577T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54989248
chr17:54989379 G
G
 A
A
 1 a0001c0002t0004g0085
a0001c0002t0004g0085
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.48-1446G>A
c.48-1446G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54989379
chr17:54989606 T
T
 C
C
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.48-1219T>C
c.48-1219T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54989606
chr17:54989973 A
A
 G
G
 1 a0001c0001t0008g0349
a0001c0001t0008g0349
 1 NA19006.hp1
NA19006.hp1
 intron_variant MODIFIER c.48-852A>G
c.48-852A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54989973
chr17:54990038 C
C
 T
T
 1 a0001c0001t0115g0028
a0001c0001t0115g0028
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.48-787C>T
c.48-787C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990038
chr17:54990219 G
G
 A
A
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.48-606G>A
c.48-606G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990219
chr17:54990286 TCAGGCGA
others(2): Show 
TCAGGCGACA
 T
T
 64 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(61): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0098g0257
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 66 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(63): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18963.hp2
NA18970.hp1
NA18978.hp1
NA18998.hp2
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.48-535_48-527delGC
others(7): Show 
c.48-535_48-527delGCGACACAG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 INFO_REALIGN_3_PRIME chr17 54990286
chr17:54990315 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.48-510G>A
c.48-510G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990315
chr17:54990322 A
A
 G
G
 33 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(30): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
 35 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(32): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.48-503A>G
c.48-503A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990322
chr17:54990428 C
C
 A
A
 2 a0001c0001t0031g0269
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0132g0268
 2 HG02280.hp2
HG02965.hp1
HG02280.hp2
HG02965.hp1
 intron_variant MODIFIER c.48-397C>A
c.48-397C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990428
chr17:54990460 T
T
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.48-365T>C
c.48-365T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990460
chr17:54990548 A
A
 T
T
 1 a0001c0001t0004g0241
a0001c0001t0004g0241
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.48-277A>T
c.48-277A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990548
chr17:54990632 T
T
 A
A
 60 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(57): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 62 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(59): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.48-193T>A
c.48-193T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990632
chr17:54990752 A
A
 G
G
 1 a0001c0001t0007g0212
a0001c0001t0007g0212
 1 NA18981.hp2
NA18981.hp2
 intron_variant MODIFIER c.48-73A>G
c.48-73A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 3/17 chr17 54990752
chr17:54991061 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.180+104A>G
c.180+104A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991061
chr17:54991068 A
A
 T
T
 1 a0001c0002t0002g0107
a0001c0002t0002g0107
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.180+111A>T
c.180+111A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991068
chr17:54991429 C
C
 T
T
 1 a0001c0001t0130g0027
a0001c0001t0130g0027
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.180+472C>T
c.180+472C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991429
chr17:54991569 A
A
 G
G
 173 a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
others(170): Show 
a0001c0001t0002g0344
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0095g0329
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0116g0287
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 176 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(173): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18952.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.180+612A>G
c.180+612A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991569
chr17:54991604 T
T
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.180+647T>G
c.180+647T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991604
chr17:54991605 C
C
 A
A
 1 a0001c0001t0090g0012
a0001c0001t0090g0012
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.180+648C>A
c.180+648C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991605
chr17:54991799 T
T
 G
G
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.180+842T>G
c.180+842T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991799
chr17:54991932 C
C
 T
T
 16 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(13): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0073g0259
a0001c0001t0096g0062
a0001c0001t0098g0257
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 16 HG00673.hp2
HG01243.hp1
HG01433.hp1
others(13): Show 
HG00673.hp2
HG01243.hp1
HG01433.hp1
HG02486.hp1
HG02615.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03130.hp2
HG04228.hp2
NA18963.hp2
NA18998.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.180+975C>T
c.180+975C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991932
chr17:54991967 T
T
 C
C
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.180+1010T>C
c.180+1010T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54991967
chr17:54992084 A
A
 G
G
 1 a0001c0002t0108g0097
a0001c0002t0108g0097
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.180+1127A>G
c.180+1127A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992084
chr17:54992114 G
G
 A
A
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.180+1157G>A
c.180+1157G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992114
chr17:54992193 T
T
 G
G
 1 a0001c0001t0064g0016
a0001c0001t0064g0016
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.180+1236T>G
c.180+1236T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992193
chr17:54992229 C
C
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.180+1272C>T
c.180+1272C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992229
chr17:54992289 A
A
 G
G
 83 a0001c0001t0001g0084
a0001c0001t0002g0344
a0001c0001t0003g0211
others(80): Show 
a0001c0001t0001g0084
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 84 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(81): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18955.hp1
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.180+1332A>G
c.180+1332A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992289
chr17:54992320 G
G
 A
A
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.180+1363G>A
c.180+1363G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992320
chr17:54992343 G
G
 A
A
 4 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(1): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 4 HG02257.hp2
HG02717.hp1
NA18522.hp2
others(1): Show 
HG02257.hp2
HG02717.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.180+1386G>A
c.180+1386G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992343
chr17:54992358 T
T
 C
C
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.180+1401T>C
c.180+1401T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992358
chr17:54992404 G
G
 A
A
 3 a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
 3 NA18991.hp1
NA19009.hp2
NA19060.hp1
NA18991.hp1
NA19009.hp2
NA19060.hp1
 intron_variant MODIFIER c.180+1447G>A
c.180+1447G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992404
chr17:54992428 A
A
 T
T
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.180+1471A>T
c.180+1471A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992428
chr17:54992705 C
C
 CT
CT
 117 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(114): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0219
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0017g0351
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0048g0346
a0001c0001t0060g0242
a0001c0001t0062g0246
a0001c0001t0081g0108
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0068
a0001c0002t0005g0095
a0001c0002t0109g0060
a0001c0011t0001g0156
a0002c0003t0003g0286
a0002c0003t0006g0003
a0002c0003t0054g0141
a0002c0003t0079g0127
a0006c0013t0001g0182
a0008c0014t0133g0008
 119 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(116): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00558.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01169.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01496.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02976.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18939.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.180+1771dupT
c.180+1771dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54992705
chr17:54992705 C
C
 CTT
CTT
 20 a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
others(17): Show 
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0220
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0007g0152
a0001c0001t0007g0212
a0001c0001t0032g0229
a0001c0001t0061g0239
a0001c0001t0078g0234
a0001c0001t0134g0233
a0003c0006t0092g0113
 20 HG00438.hp1
HG00738.hp2
HG01255.hp2
others(17): Show 
HG00438.hp1
HG00738.hp2
HG01255.hp2
HG01361.hp1
HG01934.hp1
HG02080.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG03579.hp2
NA18940.hp2
NA18977.hp1
NA18981.hp2
NA18989.hp2
NA18999.hp1
NA19005.hp2
NA19066.hp1
NA19079.hp2
NA19086.hp1
 intron_variant MODIFIER c.180+1770_180+1771d
others(4): Show 
c.180+1770_180+1771dupTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54992705
chr17:54992705 CT
CT
 C
C
 10 a0001c0001t0073g0259
a0001c0001t0099g0021
a0003c0004t0013g0260
others(7): Show 
a0001c0001t0073g0259
a0001c0001t0099g0021
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0028g0361
a0003c0004t0031g0261
a0003c0004t0131g0264
 10 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(7): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03471.hp1
HG03540.hp1
HG03540.hp2
HG04228.hp2
NA18522.hp1
 intron_variant MODIFIER c.180+1771delT
c.180+1771delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54992705
chr17:54992813 C
C
 T
T
 1 a0002c0003t0065g0121
a0002c0003t0065g0121
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.180+1856C>T
c.180+1856C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992813
chr17:54992858 G
G
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.180+1901G>A
c.180+1901G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992858
chr17:54992975 A
A
 G
G
 5 a0001c0002t0002g0030
a0001c0002t0002g0036
a0001c0002t0002g0070
others(2): Show 
a0001c0002t0002g0030
a0001c0002t0002g0036
a0001c0002t0002g0070
a0001c0002t0102g0056
a0001c0002t0128g0057
 5 HG00621.hp2
HG02027.hp1
HG04228.hp1
others(2): Show 
HG00621.hp2
HG02027.hp1
HG04228.hp1
NA19081.hp1
NA19088.hp2
 intron_variant MODIFIER c.180+2018A>G
c.180+2018A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992975
chr17:54992996 A
A
 T
T
 96 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(93): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0011t0001g0156
a0002c0003t0006g0003
a0006c0013t0001g0182
 98 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(95): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18963.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.180+2039A>T
c.180+2039A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54992996
chr17:54993013 T
T
 G
G
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.180+2056T>G
c.180+2056T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993013
chr17:54993036 C
C
 T
T
 1 a0001c0001t0001g0202
a0001c0001t0001g0202
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.180+2079C>T
c.180+2079C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993036
chr17:54993489 T
T
 G
G
 119 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(116): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0002c0003t0006g0003
a0006c0013t0001g0182
 121 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(118): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.180+2532T>G
c.180+2532T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993489
chr17:54993492 T
T
 TAGA
TAGA
 337 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(334): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0006g0003
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 342 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(339): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.180+2538_180+2540d
others(5): Show 
c.180+2538_180+2540dupAAG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54993492
chr17:54993565 T
T
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.180+2608T>C
c.180+2608T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993565
chr17:54993668 C
C
 T
T
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.180+2711C>T
c.180+2711C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993668
chr17:54993780 T
T
 C
C
 1 a0001c0001t0009g0018
a0001c0001t0009g0018
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.180+2823T>C
c.180+2823T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993780
chr17:54993802 G
G
 A
A
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0096g0062
a0001c0001t0098g0257
 5 HG00673.hp2
HG01433.hp1
HG02976.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG02976.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.180+2845G>A
c.180+2845G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993802
chr17:54993902 G
G
 A
A
 2 a0001c0002t0001g0106
a0001c0002t0002g0107
a0001c0002t0001g0106
a0001c0002t0002g0107
 2 NA18955.hp2
NA19054.hp2
NA18955.hp2
NA19054.hp2
 intron_variant MODIFIER c.180+2945G>A
c.180+2945G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993902
chr17:54993915 C
C
 T
T
 1 a0003c0004t0059g0365
a0003c0004t0059g0365
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.180+2958C>T
c.180+2958C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54993915
chr17:54994386 G
G
 A
A
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.180+3429G>A
c.180+3429G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54994386
chr17:54994412 T
T
 C
C
 1 a0002c0003t0011g0118
a0002c0003t0011g0118
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.180+3455T>C
c.180+3455T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54994412
chr17:54994417 G
G
 T
T
 1 a0001c0001t0003g0316
a0001c0001t0003g0316
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.180+3460G>T
c.180+3460G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54994417
chr17:54994506 A
A
 G
G
 86 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(83): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0011t0001g0156
a0002c0003t0006g0003
a0006c0013t0001g0182
 88 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(85): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02273.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.180+3549A>G
c.180+3549A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54994506
chr17:54994511 A
A
 G
G
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.180+3554A>G
c.180+3554A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54994511
chr17:54994655 A
A
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.180+3698A>G
c.180+3698A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54994655
chr17:54994798 C
C
 T
T
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.180+3841C>T
c.180+3841C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54994798
chr17:54995296 T
T
 C
C
 1 a0001c0001t0017g0369
a0001c0001t0017g0369
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.181-4049T>C
c.181-4049T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54995296
chr17:54995483 A
A
 C
C
 1 a0001c0001t0007g0348
a0001c0001t0007g0348
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.181-3862A>C
c.181-3862A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54995483
chr17:54995528 T
T
 C
C
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.181-3817T>C
c.181-3817T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54995528
chr17:54995632 A
A
 C
C
 166 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(163): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0002c0003t0006g0003
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 170 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(167): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.181-3713A>C
c.181-3713A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54995632
chr17:54995932 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.181-3413G>A
c.181-3413G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54995932
chr17:54996134 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.181-3211G>A
c.181-3211G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996134
chr17:54996248 A
A
 G
G
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.181-3097A>G
c.181-3097A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996248
chr17:54996257 G
G
 A
A
 4 a0001c0001t0004g0241
a0001c0001t0004g0284
a0001c0001t0004g0285
others(1): Show 
a0001c0001t0004g0241
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
 4 NA18968.hp1
NA18983.hp2
NA18986.hp2
others(1): Show 
NA18968.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
 intron_variant MODIFIER c.181-3088G>A
c.181-3088G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996257
chr17:54996302 TG
TG
 T
T
 3 a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
 3 NA18968.hp1
NA18983.hp2
NA18986.hp2
NA18968.hp1
NA18983.hp2
NA18986.hp2
 intron_variant MODIFIER c.181-3041delG
c.181-3041delG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54996302
chr17:54996497 A
A
 G
G
 107 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(104): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 108 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(105): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.181-2848A>G
c.181-2848A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996497
chr17:54996500 A
A
 G
G
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.181-2845A>G
c.181-2845A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996500
chr17:54996556 G
G
 A
A
 2 a0001c0001t0004g0236
a0001c0001t0004g0240
a0001c0001t0004g0236
a0001c0001t0004g0240
 2 NA19064.hp1
NA19065.hp1
NA19064.hp1
NA19065.hp1
 intron_variant MODIFIER c.181-2789G>A
c.181-2789G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996556
chr17:54996640 G
G
 T
T
 1 a0001c0001t0040g0345
a0001c0001t0040g0345
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.181-2705G>T
c.181-2705G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996640
chr17:54996694 G
G
 C
C
 1 a0001c0002t0002g0041
a0001c0002t0002g0041
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.181-2651G>C
c.181-2651G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996694
chr17:54996708 G
G
 A
A
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.181-2637G>A
c.181-2637G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996708
chr17:54996738 C
C
 T
T
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.181-2607C>T
c.181-2607C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996738
chr17:54996936 T
T
 A
A
 2 a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0053g0324
a0001c0001t0055g0323
 2 HG00280.hp2
HG03704.hp1
HG00280.hp2
HG03704.hp1
 intron_variant MODIFIER c.181-2409T>A
c.181-2409T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54996936
chr17:54997328 ATTC
ATTC
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.181-2006_181-2004d
others(5): Show 
c.181-2006_181-2004delTCT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997328
chr17:54997513 T
T
 A
A
 2 a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0013
a0001c0001t0019g0014
 2 HG02970.hp2
HG03139.hp1
HG02970.hp2
HG03139.hp1
 intron_variant MODIFIER c.181-1832T>A
c.181-1832T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997513
chr17:54997524 TTA
TTA
 T
T
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.181-1812_181-1811d
others(4): Show 
c.181-1812_181-1811delTA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997524
chr17:54997537 A
A
 G
G
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.181-1808A>G
c.181-1808A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997537
chr17:54997543 A
A
 ATATATAA
others(15): Show 
ATATATAATATAAATATATATAT
 41 a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
others(38): Show 
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0102g0056
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0125g0042
a0001c0002t0128g0057
 43 HG00621.hp2
HG02027.hp1
HG02040.hp1
others(40): Show 
HG00621.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02165.hp2
HG02572.hp1
HG02735.hp2
HG03098.hp1
HG03225.hp1
HG04228.hp1
NA18939.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.181-1779_181-1758d
others(24): Show 
c.181-1779_181-1758dupTATATAATATAAATATATATAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997543
chr17:54997543 A
A
 ATATATAA
others(37): Show 
ATATATAATATAAATATATATATTATATAATATAAATATATATAT
 1 a0001c0002t0002g0055
a0001c0002t0002g0055
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.181-1801_181-1758d
others(46): Show 
c.181-1801_181-1758dupTATATAATATAAATATATATATTATATA
ATATAAATATATATAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997543
chr17:54997555 A
A
 AATATATA
others(39): Show 
AATATATATATTATATAATATAAATATATATATATTTTATATATTTT
 1 a0001c0001t0063g0040
a0001c0001t0063g0040
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.181-1779_181-1734d
others(48): Show 
c.181-1779_181-1734dupTATATAATATAAATATATATATATTTTA
TATATTTTATATATATAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997555
chr17:54997577 A
A
 T
T
 6 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0081g0108
 6 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(3): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.181-1768A>T
c.181-1768A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997577
chr17:54997582 A
A
 ATATATAT
others(2): Show 
ATATATATTT
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.181-1746_181-1738d
others(11): Show 
c.181-1746_181-1738dupTTTATATAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997582
chr17:54997582 ATATATAT
others(2): Show 
ATATATATTT
 A
A
 6 a0001c0001t0004g0241
a0001c0001t0004g0284
a0001c0001t0004g0285
others(3): Show 
a0001c0001t0004g0241
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0002c0003t0006g0129
a0002c0003t0016g0130
 6 HG01070.hp1
HG01071.hp1
NA18968.hp1
others(3): Show 
HG01070.hp1
HG01071.hp1
NA18968.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
 intron_variant MODIFIER c.181-1746_181-1738d
others(11): Show 
c.181-1746_181-1738delTTTATATAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997582
chr17:54997614 A
A
 T
T
 34 a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
others(31): Show 
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0004g0253
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0098g0257
a0002c0003t0006g0258
 34 HG00673.hp2
HG01433.hp1
HG02027.hp2
others(31): Show 
HG00673.hp2
HG01433.hp1
HG02027.hp2
HG02056.hp2
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18963.hp2
NA18979.hp1
NA18984.hp2
NA18998.hp2
NA19030.hp1
NA19062.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.181-1731A>T
c.181-1731A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997614
chr17:54997616 T
T
 A
A
 2 a0002c0003t0011g0131
a0008c0014t0133g0008
a0002c0003t0011g0131
a0008c0014t0133g0008
 2 HG02818.hp2
NA18978.hp1
HG02818.hp2
NA18978.hp1
 intron_variant MODIFIER c.181-1729T>A
c.181-1729T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997616
chr17:54997685 C
C
 T
T
 5 a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
others(2): Show 
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0063g0040
a0001c0001t0090g0012
 5 HG02647.hp1
HG02809.hp2
HG02922.hp1
others(2): Show 
HG02647.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
 intron_variant MODIFIER c.181-1660C>T
c.181-1660C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997685
chr17:54997699 A
A
 G
G
 1 a0001c0001t0134g0233
a0001c0001t0134g0233
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.181-1646A>G
c.181-1646A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997699
chr17:54997751 AT
AT
 A
A
 233 a0001c0001t0001g0170
a0001c0001t0001g0243
a0001c0001t0002g0344
others(230): Show 
a0001c0001t0001g0170
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0078g0234
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0099g0021
a0001c0001t0114g0026
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 236 HG00280.hp1
HG00280.hp2
HG00423.hp2
others(233): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.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.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.181-1576delT
c.181-1576delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997751
chr17:54997751 ATT
ATT
 A
A
 6 a0001c0001t0009g0110
a0001c0001t0017g0288
a0001c0001t0090g0012
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0017g0288
a0001c0001t0090g0012
a0001c0002t0125g0042
a0001c0002t0126g0072
a0003c0004t0013g0260
 6 HG00099.hp1
HG02922.hp1
NA18522.hp1
others(3): Show 
HG00099.hp1
HG02922.hp1
NA18522.hp1
NA18961.hp1
NA19056.hp1
NA20300.hp2
 intron_variant MODIFIER c.181-1577_181-1576d
others(4): Show 
c.181-1577_181-1576delTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54997751
chr17:54997761 T
T
 C
C
 1 a0001c0001t0008g0333
a0001c0001t0008g0333
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.181-1584T>C
c.181-1584T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997761
chr17:54997774 G
G
 C
C
 1 a0001c0001t0003g0289
a0001c0001t0003g0289
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.181-1571G>C
c.181-1571G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997774
chr17:54997784 A
A
 T
T
 3 a0001c0001t0001g0155
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0001g0155
a0001c0001t0036g0153
a0001c0001t0036g0154
 3 HG00423.hp1
NA18957.hp2
NA19085.hp2
HG00423.hp1
NA18957.hp2
NA19085.hp2
 intron_variant MODIFIER c.181-1561A>T
c.181-1561A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997784
chr17:54997878 G
G
 A
A
 2 a0001c0001t0103g0157
a0001c0001t0117g0158
a0001c0001t0103g0157
a0001c0001t0117g0158
 2 HG02040.hp2
HG02083.hp2
HG02040.hp2
HG02083.hp2
 intron_variant MODIFIER c.181-1467G>A
c.181-1467G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54997878
chr17:54998066 A
A
 G
G
 278 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(275): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0006g0003
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 283 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(280): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.181-1279A>G
c.181-1279A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998066
chr17:54998073 T
T
 G
G
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.181-1272T>G
c.181-1272T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998073
chr17:54998090 T
T
 C
C
 1 a0003c0004t0066g0362
a0003c0004t0066g0362
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.181-1255T>C
c.181-1255T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998090
chr17:54998176 A
A
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.181-1169A>G
c.181-1169A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998176
chr17:54998305 A
A
 G
G
 1 a0001c0001t0007g0083
a0001c0001t0007g0083
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.181-1040A>G
c.181-1040A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998305
chr17:54998455 A
A
 G
G
 1 a0001c0001t0053g0324
a0001c0001t0053g0324
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.181-890A>G
c.181-890A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998455
chr17:54998676 G
G
 C
C
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.181-669G>C
c.181-669G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998676
chr17:54998828 A
A
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.181-517A>T
c.181-517A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998828
chr17:54998837 A
A
 T
T
 1 a0001c0001t0052g0315
a0001c0001t0052g0315
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.181-508A>T
c.181-508A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998837
chr17:54998842 A
A
 AT
AT
 157 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(154): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0025
a0001c0011t0001g0156
a0002c0003t0006g0003
a0006c0013t0001g0182
 161 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(158): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.181-491dupT
c.181-491dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54998842
chr17:54998842 AT
AT
 A
A
 82 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(79): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 83 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(80): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.181-491delT
c.181-491delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54998842
chr17:54998863 T
T
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.181-482T>G
c.181-482T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998863
chr17:54998886 A
A
 G
G
 42 a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
others(39): Show 
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0102g0056
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0125g0042
a0001c0002t0128g0057
 44 HG00621.hp2
HG02027.hp1
HG02040.hp1
others(41): Show 
HG00621.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02165.hp2
HG02572.hp1
HG02735.hp2
HG03098.hp1
HG03225.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.181-459A>G
c.181-459A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54998886
chr17:54999086 T
T
 TG
TG
 166 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(163): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0002c0003t0006g0003
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 170 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(167): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.181-258dupG
c.181-258dupG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 INFO_REALIGN_3_PRIME chr17 54999086
chr17:54999182 A
A
 G
G
 6 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0081g0108
 6 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(3): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.181-163A>G
c.181-163A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 4/17 chr17 54999182
chr17:54999456 C
C
 T
T
 2 a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0030g0126
a0002c0003t0030g0128
 2 HG01123.hp2
HG01517.hp2
HG01123.hp2
HG01517.hp2
 splice_region_variant&intron_variant LOW c.287+5C>T
c.287+5C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 5/17 chr17 54999456
chr17:54999625 G
G
 A
A
 312 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(309): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 316 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(313): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.288-7G>A
c.288-7G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 5/17 chr17 54999625
chr17:54999920 T
T
 C
C
 1 a0001c0001t0007g0083
a0001c0001t0007g0083
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.498+78T>C
c.498+78T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/17 chr17 54999920
chr17:55000070 A
A
 G
G
 1 a0002c0003t0089g0143
a0002c0003t0089g0143
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.498+228A>G
c.498+228A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/17 chr17 55000070
chr17:55000094 A
A
 G
G
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.498+252A>G
c.498+252A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/17 chr17 55000094
chr17:55000131 A
A
 G
G
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.498+289A>G
c.498+289A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/17 chr17 55000131
chr17:55000307 A
A
 G
G
 1 a0001c0002t0005g0093
a0001c0002t0005g0093
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.498+465A>G
c.498+465A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/17 chr17 55000307
chr17:55000364 T
T
 C
C
 1 a0002c0003t0006g0145
a0002c0003t0006g0145
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.499-444T>C
c.499-444T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/17 chr17 55000364
chr17:55000567 T
T
 G
G
 4 a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
others(1): Show 
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0017g0288
 4 NA19005.hp1
NA19007.hp2
NA19056.hp1
others(1): Show 
NA19005.hp1
NA19007.hp2
NA19056.hp1
NA19085.hp1
 intron_variant MODIFIER c.499-241T>G
c.499-241T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/17 chr17 55000567
chr17:55000756 A
A
 C
C
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.499-52A>C
c.499-52A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 6/17 chr17 55000756
chr17:55000919 A
A
 T
T
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.574+36A>T
c.574+36A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55000919
chr17:55000928 C
C
 A
A
 13 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(10): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 13 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(10): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.574+45C>A
c.574+45C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55000928
chr17:55001362 T
T
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.574+479T>G
c.574+479T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55001362
chr17:55001449 G
G
 T
T
 5 a0001c0001t0009g0020
a0001c0001t0034g0254
a0001c0001t0034g0256
others(2): Show 
a0001c0001t0009g0020
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 5 HG00673.hp2
HG01433.hp1
NA18522.hp2
others(2): Show 
HG00673.hp2
HG01433.hp1
NA18522.hp2
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.574+566G>T
c.574+566G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55001449
chr17:55001619 G
G
 A
A
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.574+736G>A
c.574+736G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55001619
chr17:55001718 C
C
 T
T
 1 a0001c0001t0001g0160
a0001c0001t0001g0160
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.574+835C>T
c.574+835C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55001718
chr17:55001734 G
G
 A
A
 1 a0001c0001t0134g0233
a0001c0001t0134g0233
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.574+851G>A
c.574+851G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55001734
chr17:55001790 G
G
 A
A
 2 a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0039g0032
a0001c0002t0039g0037
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 intron_variant MODIFIER c.574+907G>A
c.574+907G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55001790
chr17:55001925 C
C
 G
G
 85 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(82): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0011t0001g0156
a0006c0013t0001g0182
 86 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(83): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02273.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.574+1042C>G
c.574+1042C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55001925
chr17:55001926 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.574+1043G>A
c.574+1043G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55001926
chr17:55002145 A
A
 C
C
 7 a0001c0001t0003g0283
a0001c0001t0010g0282
a0001c0001t0010g0314
others(4): Show 
a0001c0001t0003g0283
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0049g0310
a0001c0001t0056g0312
 7 HG00733.hp1
HG01074.hp2
HG01496.hp2
others(4): Show 
HG00733.hp1
HG01074.hp2
HG01496.hp2
HG01928.hp2
HG01993.hp2
HG02004.hp2
HG02300.hp1
 intron_variant MODIFIER c.574+1262A>C
c.574+1262A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55002145
chr17:55002177 A
A
 C
C
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.574+1294A>C
c.574+1294A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55002177
chr17:55002266 T
T
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.574+1383T>A
c.574+1383T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55002266
chr17:55002409 G
G
 A
A
 1 a0002c0003t0089g0143
a0002c0003t0089g0143
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.574+1526G>A
c.574+1526G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55002409
chr17:55002645 C
C
 T
T
 74 a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
others(71): Show 
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 76 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.574+1762C>T
c.574+1762C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55002645
chr17:55002857 C
C
 T
T
 1 a0001c0001t0045g0350
a0001c0001t0045g0350
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.574+1974C>T
c.574+1974C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55002857
chr17:55003109 A
A
 T
T
 3 a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
 3 NA18968.hp1
NA18983.hp2
NA18986.hp2
NA18968.hp1
NA18983.hp2
NA18986.hp2
 intron_variant MODIFIER c.574+2226A>T
c.574+2226A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55003109
chr17:55003260 A
A
 G
G
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.574+2377A>G
c.574+2377A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55003260
chr17:55003525 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.574+2642A>G
c.574+2642A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55003525
chr17:55003973 A
A
 T
T
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.574+3090A>T
c.574+3090A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55003973
chr17:55004062 C
C
 G
G
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.574+3179C>G
c.574+3179C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004062
chr17:55004147 C
C
 T
T
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.574+3264C>T
c.574+3264C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004147
chr17:55004155 C
C
 T
T
 2 a0001c0001t0052g0315
a0001c0001t0057g0317
a0001c0001t0052g0315
a0001c0001t0057g0317
 2 HG01952.hp1
HG02148.hp1
HG01952.hp1
HG02148.hp1
 intron_variant MODIFIER c.574+3272C>T
c.574+3272C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004155
chr17:55004169 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.574+3286C>T
c.574+3286C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004169
chr17:55004247 G
G
 A
A
 1 a0002c0003t0006g0119
a0002c0003t0006g0119
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.575-3259G>A
c.575-3259G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004247
chr17:55004312 A
A
 G
G
 3 a0001c0001t0001g0160
a0001c0001t0001g0210
a0001c0001t0007g0196
a0001c0001t0001g0160
a0001c0001t0001g0210
a0001c0001t0007g0196
 3 HG01081.hp1
HG01255.hp2
HG02809.hp1
HG01081.hp1
HG01255.hp2
HG02809.hp1
 intron_variant MODIFIER c.575-3194A>G
c.575-3194A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004312
chr17:55004342 T
T
 C
C
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
 36 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(33): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.575-3164T>C
c.575-3164T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004342
chr17:55004360 T
T
 C
C
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
 36 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(33): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.575-3146T>C
c.575-3146T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004360
chr17:55004527 C
C
 A
A
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.575-2979C>A
c.575-2979C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004527
chr17:55004561 C
C
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.575-2945C>T
c.575-2945C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004561
chr17:55004568 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.575-2938G>A
c.575-2938G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004568
chr17:55004639 T
T
 C
C
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.575-2867T>C
c.575-2867T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004639
chr17:55004698 C
C
 G
G
 2 a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0005t0005g0024
a0001c0005t0005g0025
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.575-2808C>G
c.575-2808C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004698
chr17:55004698 C
C
 T
T
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.575-2808C>T
c.575-2808C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004698
chr17:55004839 A
A
 G
G
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.575-2667A>G
c.575-2667A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55004839
chr17:55004884 TA
TA
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.575-2619delA
c.575-2619delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 INFO_REALIGN_3_PRIME chr17 55004884
chr17:55005128 A
A
 G
G
 3 a0001c0002t0005g0093
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0005g0093
a0001c0002t0005g0104
a0001c0002t0005g0105
 3 HG01106.hp2
HG02148.hp2
HG02683.hp2
HG01106.hp2
HG02148.hp2
HG02683.hp2
 intron_variant MODIFIER c.575-2378A>G
c.575-2378A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55005128
chr17:55005287 T
T
 C
C
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.575-2219T>C
c.575-2219T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55005287
chr17:55005290 G
G
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.575-2216G>A
c.575-2216G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55005290
chr17:55005524 C
C
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.575-1982C>A
c.575-1982C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55005524
chr17:55005679 A
A
 G
G
 7 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(4): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0253
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0093g0237
 7 HG02027.hp2
NA18961.hp2
NA18981.hp1
others(4): Show 
HG02027.hp2
NA18961.hp2
NA18981.hp1
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
 intron_variant MODIFIER c.575-1827A>G
c.575-1827A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55005679
chr17:55005761 A
A
 G
G
 313 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(310): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0006g0003
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 318 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(315): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.575-1745A>G
c.575-1745A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55005761
chr17:55006011 A
A
 T
T
 1 a0001c0001t0001g0210
a0001c0001t0001g0210
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.575-1495A>T
c.575-1495A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006011
chr17:55006231 A
A
 G
G
 4 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(1): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 4 HG02257.hp2
HG02717.hp1
NA18522.hp2
others(1): Show 
HG02257.hp2
HG02717.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.575-1275A>G
c.575-1275A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006231
chr17:55006291 A
A
 G
G
 3 a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 3 HG02257.hp2
NA18522.hp2
NA19030.hp1
HG02257.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.575-1215A>G
c.575-1215A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006291
chr17:55006475 G
G
 A
A
 1 a0001c0002t0102g0056
a0001c0002t0102g0056
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.575-1031G>A
c.575-1031G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006475
chr17:55006497 T
T
 C
C
 6 a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
others(3): Show 
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0091g0225
a0001c0001t0097g0222
 6 HG01109.hp1
NA18951.hp2
NA18963.hp1
others(3): Show 
HG01109.hp1
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19058.hp2
 intron_variant MODIFIER c.575-1009T>C
c.575-1009T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006497
chr17:55006530 G
G
 A
A
 107 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(104): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 108 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(105): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.575-976G>A
c.575-976G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006530
chr17:55006542 G
G
 A
A
 1 a0001c0001t0018g0223
a0001c0001t0018g0223
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.575-964G>A
c.575-964G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006542
chr17:55006606 T
T
 C
C
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.575-900T>C
c.575-900T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006606
chr17:55006634 A
A
 T
T
 1 a0001c0002t0008g0038
a0001c0002t0008g0038
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.575-872A>T
c.575-872A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006634
chr17:55006763 A
A
 G
G
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.575-743A>G
c.575-743A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006763
chr17:55006833 A
A
 G
G
 1 a0001c0001t0003g0309
a0001c0001t0003g0309
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.575-673A>G
c.575-673A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55006833
chr17:55007021 A
A
 G
G
 1 a0002c0003t0006g0119
a0002c0003t0006g0119
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.575-485A>G
c.575-485A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55007021
chr17:55007212 A
A
 C
C
 1 a0001c0001t0034g0256
a0001c0001t0034g0256
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.575-294A>C
c.575-294A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55007212
chr17:55007263 C
C
 T
T
 1 a0001c0001t0007g0195
a0001c0001t0007g0195
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.575-243C>T
c.575-243C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55007263
chr17:55007289 G
G
 A
A
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.575-217G>A
c.575-217G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55007289
chr17:55007335 C
C
 T
T
 4 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(1): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 4 HG02257.hp2
HG02717.hp1
NA18522.hp2
others(1): Show 
HG02257.hp2
HG02717.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.575-171C>T
c.575-171C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55007335
chr17:55007336 CT
CT
 C
C
 80 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(77): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 82 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(79): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.575-169delT
c.575-169delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55007336
chr17:55007340 A
A
 C
C
 10 a0001c0002t0002g0035
a0001c0002t0002g0053
a0001c0002t0002g0054
others(7): Show 
a0001c0002t0002g0035
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0067
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0005g0103
a0001c0002t0008g0038
a0001c0002t0104g0077
 10 HG00280.hp1
HG01123.hp1
HG01169.hp1
others(7): Show 
HG00280.hp1
HG01123.hp1
HG01169.hp1
HG01261.hp1
HG01517.hp1
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18992.hp1
NA19066.hp2
 intron_variant MODIFIER c.575-166A>C
c.575-166A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55007340
chr17:55007429 C
C
 T
T
 72 a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
others(69): Show 
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 74 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(71): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.575-77C>T
c.575-77C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 7/17 chr17 55007429
chr17:55007825 G
G
 C
C
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.666+228G>C
c.666+228G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55007825
chr17:55007848 C
C
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.666+251C>T
c.666+251C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55007848
chr17:55007924 C
C
 T
T
 1 a0001c0001t0001g0170
a0001c0001t0001g0170
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.666+327C>T
c.666+327C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55007924
chr17:55008208 C
C
 CA
CA
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.666+611_666+612ins
others(1): Show 
c.666+611_666+612insA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008208
chr17:55008209 C
C
 A
A
 188 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(185): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 191 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(188): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.666+612C>A
c.666+612C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008209
chr17:55008210 C
C
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.666+613C>T
c.666+613C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008210
chr17:55008211 T
T
 C
C
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.666+614T>C
c.666+614T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008211
chr17:55008234 G
G
 C
C
 2 a0001c0001t0052g0315
a0001c0001t0057g0317
a0001c0001t0052g0315
a0001c0001t0057g0317
 2 HG01952.hp1
HG02148.hp1
HG01952.hp1
HG02148.hp1
 intron_variant MODIFIER c.666+637G>C
c.666+637G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008234
chr17:55008238 T
T
 C
C
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.666+641T>C
c.666+641T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008238
chr17:55008291 A
A
 C
C
 5 a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
others(2): Show 
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0002g0058
a0001c0002t0108g0097
 5 HG02145.hp2
HG02572.hp1
HG02717.hp2
others(2): Show 
HG02145.hp2
HG02572.hp1
HG02717.hp2
HG03130.hp1
HG03225.hp1
 intron_variant MODIFIER c.666+694A>C
c.666+694A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008291
chr17:55008305 G
G
 C
C
 1 a0002c0003t0016g0004
a0002c0003t0016g0004
 2 HG01928.hp1
HG01993.hp1
HG01928.hp1
HG01993.hp1
 intron_variant MODIFIER c.666+708G>C
c.666+708G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008305
chr17:55008681 G
G
 T
T
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.666+1084G>T
c.666+1084G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008681
chr17:55008808 G
G
 T
T
 1 a0008c0014t0133g0008
a0008c0014t0133g0008
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.666+1211G>T
c.666+1211G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008808
chr17:55008970 T
T
 C
C
 1 a0001c0001t0035g0167
a0001c0001t0035g0167
 1 NA18991.hp1
NA18991.hp1
 intron_variant MODIFIER c.666+1373T>C
c.666+1373T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55008970
chr17:55009063 A
A
 G
G
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.666+1466A>G
c.666+1466A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55009063
chr17:55009130 C
C
 G
G
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.666+1533C>G
c.666+1533C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55009130
chr17:55009293 T
T
 A
A
 1 a0001c0001t0041g0293
a0001c0001t0041g0293
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.666+1696T>A
c.666+1696T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55009293
chr17:55009576 T
T
 C
C
 366 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(363): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 372 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(369): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.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
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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.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
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+1979T>C
c.666+1979T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55009576
chr17:55009771 T
T
 A
A
 118 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(115): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0006c0013t0001g0182
 119 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(116): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+2174T>A
c.666+2174T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55009771
chr17:55009775 G
G
 A
A
 5 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
others(2): Show 
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 intron_variant MODIFIER c.666+2178G>A
c.666+2178G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55009775
chr17:55009957 T
T
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.666+2360T>G
c.666+2360T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55009957
chr17:55009971 A
A
 G
G
 10 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(7): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0090g0012
 10 HG02257.hp2
HG02647.hp1
HG02717.hp1
others(7): Show 
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.666+2374A>G
c.666+2374A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55009971
chr17:55010104 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.666+2507G>A
c.666+2507G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55010104
chr17:55010249 CAT
CAT
 C
C
 191 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(188): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 194 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(191): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.666+2666_666+2667d
others(4): Show 
c.666+2666_666+2667delTA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55010249
chr17:55010605 G
G
 A
A
 1 a0001c0001t0064g0016
a0001c0001t0064g0016
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.666+3008G>A
c.666+3008G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55010605
chr17:55010704 T
T
 C
C
 1 a0001c0001t0032g0227
a0001c0001t0032g0227
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.666+3107T>C
c.666+3107T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55010704
chr17:55010805 T
T
 C
C
 2 a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0039g0032
a0001c0002t0039g0037
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 intron_variant MODIFIER c.666+3208T>C
c.666+3208T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55010805
chr17:55010959 T
T
 C
C
 2 a0001c0001t0004g0245
a0001c0001t0004g0250
a0001c0001t0004g0245
a0001c0001t0004g0250
 2 HG02080.hp2
HG02083.hp1
HG02080.hp2
HG02083.hp1
 intron_variant MODIFIER c.666+3362T>C
c.666+3362T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55010959
chr17:55011234 T
T
 A
A
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.666+3637T>A
c.666+3637T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011234
chr17:55011250 T
T
 A
A
 2 a0003c0004t0021g0331
a0009c0008t0021g0267
a0003c0004t0021g0331
a0009c0008t0021g0267
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 intron_variant MODIFIER c.666+3653T>A
c.666+3653T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011250
chr17:55011435 C
C
 T
T
 17 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(14): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0098g0257
 17 HG00673.hp2
HG01109.hp1
HG01433.hp1
others(14): Show 
HG00673.hp2
HG01109.hp1
HG01433.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18998.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.666+3838C>T
c.666+3838C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011435
chr17:55011503 T
T
 TTTCTC
TTTCTC
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+3908_666+3909i
others(7): Show 
c.666+3908_666+3909insCTCTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55011503
chr17:55011508 C
C
 CTTTTT
CTTTTT
 69 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(66): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 70 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(67): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01993.hp2
HG02004.hp2
HG02132.hp2
HG02145.hp1
HG02165.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02735.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18975.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.666+3924_666+3928d
others(7): Show 
c.666+3924_666+3928dupTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55011508
chr17:55011508 C
C
 CTTTTTT
CTTTTTT
 30 a0001c0001t0003g0321
a0001c0001t0010g0314
a0001c0001t0017g0351
others(27): Show 
a0001c0001t0003g0321
a0001c0001t0010g0314
a0001c0001t0017g0351
a0001c0001t0024g0307
a0001c0001t0040g0345
a0001c0001t0043g0308
a0001c0001t0046g0281
a0001c0001t0050g0360
a0001c0001t0057g0317
a0001c0001t0073g0259
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0077g0363
a0003c0004t0131g0264
a0004c0007t0020g0009
a0004c0007t0020g0010
a0009c0008t0021g0267
 30 HG01081.hp2
HG01358.hp2
HG02055.hp1
others(27): Show 
HG01081.hp2
HG01358.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02300.hp1
HG02615.hp1
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
HG03942.hp1
HG04228.hp2
NA18522.hp1
NA18973.hp1
NA19043.hp1
NA19043.hp2
NA19062.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.666+3923_666+3928d
others(8): Show 
c.666+3923_666+3928dupTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55011508
chr17:55011508 C
C
 CTTTTTTT
CTTTTTTT
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0240
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0002g0043
a0001c0002t0002g0107
a0003c0004t0013g0266
a0003c0004t0028g0364
a0003c0004t0076g0371
a0008c0014t0133g0008
 37 HG00673.hp1
HG01109.hp1
HG01243.hp1
others(34): Show 
HG00673.hp1
HG01109.hp1
HG01243.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp1
HG02280.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG03471.hp1
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18955.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19068.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.666+3922_666+3928d
others(9): Show 
c.666+3922_666+3928dupTTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55011508
chr17:55011508 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 89 a0001c0001t0001g0171
a0001c0001t0001g0194
a0001c0001t0001g0218
others(86): Show 
a0001c0001t0001g0171
a0001c0001t0001g0194
a0001c0001t0001g0218
a0001c0001t0004g0238
a0001c0001t0004g0253
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0052g0315
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0095g0329
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0090
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0093
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0107g0045
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0002c0003t0006g0119
a0002c0003t0011g0120
 91 HG00639.hp1
HG00733.hp2
HG00738.hp1
others(88): Show 
HG00639.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01168.hp1
HG01261.hp1
HG01346.hp1
HG01952.hp1
HG02004.hp1
HG02027.hp2
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03704.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18957.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp2
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19004.hp2
NA19030.hp1
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.666+3921_666+3928d
others(10): Show 
c.666+3921_666+3928dupTTTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55011508
chr17:55011508 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 97 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(94): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0151
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0348
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0035g0005
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0090g0012
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0117g0158
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0002g0030
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0091
a0001c0002t0005g0095
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0108g0097
a0001c0002t0126g0072
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0006c0013t0001g0182
 98 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(95): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02273.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02965.hp1
HG03130.hp1
HG03225.hp2
HG03490.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+3920_666+3928d
others(11): Show 
c.666+3920_666+3928dupTTTTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55011508
chr17:55011508 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 9 a0001c0001t0001g0209
a0001c0001t0001g0219
a0001c0001t0007g0083
others(6): Show 
a0001c0001t0001g0209
a0001c0001t0001g0219
a0001c0001t0007g0083
a0001c0001t0007g0152
a0001c0001t0007g0217
a0001c0001t0035g0167
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0119g0148
 9 HG00735.hp2
HG01361.hp1
HG02056.hp1
others(6): Show 
HG00735.hp2
HG01361.hp1
HG02056.hp1
HG02145.hp2
HG03688.hp2
HG04184.hp2
NA18977.hp1
NA18991.hp1
NA19075.hp1
 intron_variant MODIFIER c.666+3919_666+3928d
others(12): Show 
c.666+3919_666+3928dupTTTTTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55011508
chr17:55011508 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+3911C>T
c.666+3911C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011508
chr17:55011576 G
G
 C
C
 1 a0001c0001t0001g0219
a0001c0001t0001g0219
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.666+3979G>C
c.666+3979G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011576
chr17:55011709 C
C
 T
T
 3 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
 3 HG02280.hp2
HG02630.hp1
HG02965.hp1
HG02280.hp2
HG02630.hp1
HG02965.hp1
 intron_variant MODIFIER c.666+4112C>T
c.666+4112C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011709
chr17:55011772 T
T
 C
C
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+4175T>C
c.666+4175T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011772
chr17:55011778 G
G
 C
C
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+4181G>C
c.666+4181G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011778
chr17:55011827 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.666+4230A>G
c.666+4230A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55011827
chr17:55012180 T
T
 C
C
 2 a0002c0003t0006g0003
a0002c0003t0083g0132
a0002c0003t0006g0003
a0002c0003t0083g0132
 3 HG01168.hp2
HG01169.hp2
HG03834.hp2
HG01168.hp2
HG01169.hp2
HG03834.hp2
 intron_variant MODIFIER c.666+4583T>C
c.666+4583T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012180
chr17:55012192 C
C
 T
T
 1 a0001c0002t0038g0079
a0001c0002t0038g0079
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.666+4595C>T
c.666+4595C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012192
chr17:55012196 G
G
 C
C
 2 a0002c0003t0006g0003
a0002c0003t0083g0132
a0002c0003t0006g0003
a0002c0003t0083g0132
 3 HG01168.hp2
HG01169.hp2
HG03834.hp2
HG01168.hp2
HG01169.hp2
HG03834.hp2
 intron_variant MODIFIER c.666+4599G>C
c.666+4599G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012196
chr17:55012276 T
T
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.666+4679T>A
c.666+4679T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012276
chr17:55012326 T
T
 C
C
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+4729T>C
c.666+4729T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012326
chr17:55012445 T
T
 C
C
 1 a0001c0001t0040g0335
a0001c0001t0040g0335
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.666+4848T>C
c.666+4848T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012445
chr17:55012502 G
G
 A
A
 2 a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0174
a0001c0001t0001g0175
 2 HG01346.hp2
homoSapiens_chm13v2.hp1
HG01346.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+4905G>A
c.666+4905G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012502
chr17:55012557 G
G
 T
T
 9 a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0160
others(6): Show 
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0160
a0001c0001t0001g0210
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0196
a0001c0001t0116g0287
 9 HG00735.hp2
HG01071.hp2
HG01081.hp1
others(6): Show 
HG00735.hp2
HG01071.hp2
HG01081.hp1
HG01255.hp2
HG01258.hp1
HG01496.hp1
HG02809.hp1
HG03669.hp2
HG04184.hp2
 intron_variant MODIFIER c.666+4960G>T
c.666+4960G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012557
chr17:55012573 C
C
 G
G
 1 a0001c0002t0002g0043
a0001c0002t0002g0043
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.666+4976C>G
c.666+4976C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012573
chr17:55012937 G
G
 A
A
 1 a0001c0001t0007g0195
a0001c0001t0007g0195
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.666+5340G>A
c.666+5340G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55012937
chr17:55013003 G
G
 A
A
 2 a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0005t0005g0024
a0001c0005t0005g0025
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.666+5406G>A
c.666+5406G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55013003
chr17:55013113 A
A
 C
C
 163 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(160): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 166 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(163): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+5516A>C
c.666+5516A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55013113
chr17:55013317 G
G
 A
A
 2 a0001c0001t0052g0315
a0001c0001t0057g0317
a0001c0001t0052g0315
a0001c0001t0057g0317
 2 HG01952.hp1
HG02148.hp1
HG01952.hp1
HG02148.hp1
 intron_variant MODIFIER c.666+5720G>A
c.666+5720G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55013317
chr17:55013406 A
A
 G
G
 1 a0001c0001t0050g0360
a0001c0001t0050g0360
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.666+5809A>G
c.666+5809A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55013406
chr17:55013631 A
A
 G
G
 1 a0001c0001t0006g0306
a0001c0001t0006g0306
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.666+6034A>G
c.666+6034A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55013631
chr17:55013797 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.666+6200C>T
c.666+6200C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55013797
chr17:55013820 G
G
 C
C
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+6223G>C
c.666+6223G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55013820
chr17:55013905 A
A
 G
G
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+6308A>G
c.666+6308A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55013905
chr17:55014183 G
G
 C
C
 1 a0002c0003t0006g0145
a0002c0003t0006g0145
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.666+6586G>C
c.666+6586G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014183
chr17:55014374 A
A
 G
G
 1 a0001c0001t0007g0083
a0001c0001t0007g0083
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.666+6777A>G
c.666+6777A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014374
chr17:55014428 C
C
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+6831C>A
c.666+6831C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014428
chr17:55014602 G
G
 A
A
 5 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(2): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0080g0114
 5 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(2): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.666+7005G>A
c.666+7005G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014602
chr17:55014658 G
G
 A
A
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.666+7061G>A
c.666+7061G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014658
chr17:55014679 G
G
 A
A
 2 a0001c0001t0073g0259
a0001c0001t0096g0062
a0001c0001t0073g0259
a0001c0001t0096g0062
 2 HG02976.hp1
HG04228.hp2
HG02976.hp1
HG04228.hp2
 intron_variant MODIFIER c.666+7082G>A
c.666+7082G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014679
chr17:55014704 A
A
 G
G
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+7107A>G
c.666+7107A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014704
chr17:55014816 C
C
 G
G
 10 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(7): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0090g0012
 10 HG02257.hp2
HG02647.hp1
HG02717.hp1
others(7): Show 
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.666+7219C>G
c.666+7219C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014816
chr17:55014843 A
A
 G
G
 3 a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
 3 NA18991.hp1
NA19009.hp2
NA19060.hp1
NA18991.hp1
NA19009.hp2
NA19060.hp1
 intron_variant MODIFIER c.666+7246A>G
c.666+7246A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014843
chr17:55014852 G
G
 A
A
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+7255G>A
c.666+7255G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014852
chr17:55014859 C
C
 T
T
 4 a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
others(1): Show 
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0090g0012
 4 HG02809.hp2
HG02922.hp1
HG02970.hp2
others(1): Show 
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
 intron_variant MODIFIER c.666+7262C>T
c.666+7262C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014859
chr17:55014875 C
C
 G
G
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.666+7278C>G
c.666+7278C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014875
chr17:55014883 G
G
 A
A
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.666+7286G>A
c.666+7286G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55014883
chr17:55015141 C
C
 T
T
 4 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(1): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 4 HG02257.hp2
HG02717.hp1
NA18522.hp2
others(1): Show 
HG02257.hp2
HG02717.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.666+7544C>T
c.666+7544C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015141
chr17:55015165 G
G
 A
A
 2 a0001c0001t0003g0328
a0001c0001t0014g0336
a0001c0001t0003g0328
a0001c0001t0014g0336
 2 NA19056.hp2
NA19090.hp1
NA19056.hp2
NA19090.hp1
 intron_variant MODIFIER c.666+7568G>A
c.666+7568G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015165
chr17:55015293 C
C
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.666+7696C>A
c.666+7696C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015293
chr17:55015309 A
A
 G
G
 4 a0001c0001t0003g0305
a0001c0001t0025g0007
a0001c0001t0043g0308
others(1): Show 
a0001c0001t0003g0305
a0001c0001t0025g0007
a0001c0001t0043g0308
a0001c0001t0096g0062
 5 HG02735.hp1
HG02976.hp1
HG03491.hp2
others(2): Show 
HG02735.hp1
HG02976.hp1
HG03491.hp2
HG03492.hp1
HG03942.hp1
 intron_variant MODIFIER c.666+7712A>G
c.666+7712A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015309
chr17:55015418 T
T
 C
C
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+7821T>C
c.666+7821T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015418
chr17:55015453 G
G
 A
A
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.666+7856G>A
c.666+7856G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015453
chr17:55015593 G
G
 A
A
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.666+7996G>A
c.666+7996G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015593
chr17:55015709 AC
AC
 A
A
 15 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(12): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 15 HG00673.hp1
HG02027.hp2
NA18951.hp1
others(12): Show 
HG00673.hp1
HG02027.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18978.hp2
NA18981.hp1
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.666+8114delC
c.666+8114delC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55015709
chr17:55015789 G
G
 T
T
 1 a0001c0001t0008g0332
a0001c0001t0008g0332
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.666+8192G>T
c.666+8192G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015789
chr17:55015827 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.666+8230G>A
c.666+8230G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015827
chr17:55015883 C
C
 G
G
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.666+8286C>G
c.666+8286C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55015883
chr17:55016009 C
C
 T
T
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.666+8412C>T
c.666+8412C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016009
chr17:55016015 G
G
 A
A
 1 a0002c0003t0006g0139
a0002c0003t0006g0139
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.666+8418G>A
c.666+8418G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016015
chr17:55016115 G
G
 A
A
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+8518G>A
c.666+8518G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016115
chr17:55016126 C
C
 T
T
 21 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(18): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 21 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(18): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.666+8529C>T
c.666+8529C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016126
chr17:55016155 G
G
 A
A
 1 a0003c0004t0031g0261
a0003c0004t0031g0261
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.666+8558G>A
c.666+8558G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016155
chr17:55016194 G
G
 A
A
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.666+8597G>A
c.666+8597G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016194
chr17:55016220 C
C
 T
T
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.666+8623C>T
c.666+8623C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016220
chr17:55016232 A
A
 C
C
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.666+8635A>C
c.666+8635A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016232
chr17:55016238 C
C
 T
T
 7 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(4): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
 7 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(4): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.666+8641C>T
c.666+8641C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016238
chr17:55016279 C
C
 G
G
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.666+8682C>G
c.666+8682C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016279
chr17:55016330 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.666+8733C>T
c.666+8733C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016330
chr17:55016353 G
G
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+8756G>T
c.666+8756G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016353
chr17:55016409 A
A
 G
G
 1 a0003c0004t0015g0279
a0003c0004t0015g0279
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.666+8812A>G
c.666+8812A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016409
chr17:55016447 C
C
 T
T
 7 a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
others(4): Show 
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0009c0008t0021g0267
 7 HG01081.hp2
HG02257.hp1
HG02630.hp2
others(4): Show 
HG01081.hp2
HG02257.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG03540.hp2
NA19043.hp2
 intron_variant MODIFIER c.666+8850C>T
c.666+8850C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016447
chr17:55016578 T
T
 C
C
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.666+8981T>C
c.666+8981T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016578
chr17:55016604 G
G
 C
C
 277 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(274): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 281 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(278): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+9007G>C
c.666+9007G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016604
chr17:55016626 T
T
 C
C
 1 a0003c0004t0013g0262
a0003c0004t0013g0262
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.666+9029T>C
c.666+9029T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016626
chr17:55016761 T
T
 C
C
 165 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(162): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 168 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(165): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+9164T>C
c.666+9164T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016761
chr17:55016781 C
C
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.666+9184C>G
c.666+9184C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016781
chr17:55016806 C
C
 G
G
 2 a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0005g0078
a0001c0002t0005g0095
 2 HG00280.hp1
HG01123.hp1
HG00280.hp1
HG01123.hp1
 intron_variant MODIFIER c.666+9209C>G
c.666+9209C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016806
chr17:55016809 T
T
 C
C
 1 a0001c0001t0067g0337
a0001c0001t0067g0337
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.666+9212T>C
c.666+9212T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016809
chr17:55016842 T
T
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+9245T>A
c.666+9245T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016842
chr17:55016968 G
G
 A
A
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.666+9371G>A
c.666+9371G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55016968
chr17:55017223 C
C
 T
T
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.666+9626C>T
c.666+9626C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55017223
chr17:55017393 G
G
 A
A
 160 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(157): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 163 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(160): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+9796G>A
c.666+9796G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55017393
chr17:55017440 C
C
 T
T
 74 a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
others(71): Show 
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 76 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.666+9843C>T
c.666+9843C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55017440
chr17:55017656 T
T
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.666+10059T>A
c.666+10059T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55017656
chr17:55017685 A
A
 G
G
 160 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(157): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 163 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(160): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+10088A>G
c.666+10088A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55017685
chr17:55017700 G
G
 C
C
 165 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(162): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 168 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(165): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+10103G>C
c.666+10103G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55017700
chr17:55017784 C
C
 G
G
 10 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(7): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0090g0012
 10 HG02257.hp2
HG02647.hp1
HG02717.hp1
others(7): Show 
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.666+10187C>G
c.666+10187C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55017784
chr17:55017784 C
C
 T
T
 1 a0001c0001t0009g0110
a0001c0001t0009g0110
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.666+10187C>T
c.666+10187C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55017784
chr17:55018005 G
G
 A
A
 159 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(156): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 162 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(159): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.666+10408G>A
c.666+10408G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018005
chr17:55018006 G
G
 T
T
 1 a0001c0001t0041g0293
a0001c0001t0041g0293
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.666+10409G>T
c.666+10409G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018006
chr17:55018067 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+10470C>T
c.666+10470C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018067
chr17:55018116 A
A
 G
G
 1 a0001c0001t0063g0040
a0001c0001t0063g0040
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.666+10519A>G
c.666+10519A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018116
chr17:55018130 GGTGA
GGTGA
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+10537_666+1054
others(8): Show 
c.666+10537_666+10540delAGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55018130
chr17:55018158 G
G
 A
A
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.666+10561G>A
c.666+10561G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018158
chr17:55018166 C
C
 T
T
 4 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(1): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0138
 4 HG02071.hp1
NA18970.hp1
NA19074.hp1
others(1): Show 
HG02071.hp1
NA18970.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.666+10569C>T
c.666+10569C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018166
chr17:55018221 C
C
 T
T
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.666+10624C>T
c.666+10624C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018221
chr17:55018294 T
T
 C
C
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.666+10697T>C
c.666+10697T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018294
chr17:55018469 A
A
 G
G
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
 36 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(33): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.666+10872A>G
c.666+10872A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018469
chr17:55018664 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+11067C>T
c.666+11067C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018664
chr17:55018703 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.666+11106G>A
c.666+11106G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018703
chr17:55018818 G
G
 A
A
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.666+11221G>A
c.666+11221G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018818
chr17:55018916 T
T
 G
G
 2 a0002c0003t0006g0119
a0002c0003t0011g0120
a0002c0003t0006g0119
a0002c0003t0011g0120
 2 HG02886.hp2
HG03139.hp2
HG02886.hp2
HG03139.hp2
 intron_variant MODIFIER c.666+11319T>G
c.666+11319T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55018916
chr17:55019021 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.666+11424T>C
c.666+11424T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019021
chr17:55019104 T
T
 G
G
 1 a0001c0001t0009g0111
a0001c0001t0009g0111
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.666+11507T>G
c.666+11507T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019104
chr17:55019311 A
A
 T
T
 3 a0001c0001t0008g0352
a0001c0001t0008g0359
a0001c0001t0050g0360
a0001c0001t0008g0352
a0001c0001t0008g0359
a0001c0001t0050g0360
 3 HG02109.hp1
HG02451.hp1
HG06807.hp2
HG02109.hp1
HG02451.hp1
HG06807.hp2
 intron_variant MODIFIER c.666+11714A>T
c.666+11714A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019311
chr17:55019362 C
C
 T
T
 34 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(31): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
 34 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(31): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.666+11765C>T
c.666+11765C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019362
chr17:55019364 T
T
 G
G
 4 a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
others(1): Show 
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0002c0003t0088g0125
 4 HG01109.hp2
HG01123.hp2
HG01517.hp2
others(1): Show 
HG01109.hp2
HG01123.hp2
HG01517.hp2
HG02055.hp2
 intron_variant MODIFIER c.666+11767T>G
c.666+11767T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019364
chr17:55019410 T
T
 C
C
 170 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(167): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 173 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(170): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.667-11758T>C
c.667-11758T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019410
chr17:55019459 G
G
 C
C
 5 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
others(2): Show 
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 intron_variant MODIFIER c.667-11709G>C
c.667-11709G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019459
chr17:55019676 C
C
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.667-11492C>G
c.667-11492C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019676
chr17:55019706 A
A
 C
C
 1 a0001c0002t0005g0096
a0001c0002t0005g0096
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.667-11462A>C
c.667-11462A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019706
chr17:55019759 T
T
 G
G
 2 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0034g0254
a0001c0001t0034g0256
 2 HG00673.hp2
NA18963.hp2
HG00673.hp2
NA18963.hp2
 intron_variant MODIFIER c.667-11409T>G
c.667-11409T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019759
chr17:55019784 G
G
 C
C
 1 a0003c0004t0013g0263
a0003c0004t0013g0263
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.667-11384G>C
c.667-11384G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019784
chr17:55019869 T
T
 C
C
 2 a0001c0001t0001g0235
a0001c0001t0106g0176
a0001c0001t0001g0235
a0001c0001t0106g0176
 2 HG02129.hp1
NA19090.hp2
HG02129.hp1
NA19090.hp2
 intron_variant MODIFIER c.667-11299T>C
c.667-11299T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55019869
chr17:55020033 G
G
 C
C
 1 a0001c0001t0008g0338
a0001c0001t0008g0338
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.667-11135G>C
c.667-11135G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020033
chr17:55020053 C
C
 G
G
 5 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
others(2): Show 
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 intron_variant MODIFIER c.667-11115C>G
c.667-11115C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020053
chr17:55020134 G
G
 A
A
 3 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0106g0176
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0106g0176
 3 HG00673.hp2
NA18963.hp2
NA19090.hp2
HG00673.hp2
NA18963.hp2
NA19090.hp2
 intron_variant MODIFIER c.667-11034G>A
c.667-11034G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020134
chr17:55020201 T
T
 G
G
 1 a0001c0001t0095g0329
a0001c0001t0095g0329
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.667-10967T>G
c.667-10967T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020201
chr17:55020417 T
T
 C
C
 4 a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
others(1): Show 
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
 4 NA18962.hp1
NA18973.hp1
NA18991.hp2
others(1): Show 
NA18962.hp1
NA18973.hp1
NA18991.hp2
NA19004.hp1
 intron_variant MODIFIER c.667-10751T>C
c.667-10751T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020417
chr17:55020421 G
G
 C
C
 1 a0001c0001t0047g0366
a0001c0001t0047g0366
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.667-10747G>C
c.667-10747G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020421
chr17:55020430 G
G
 A
A
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.667-10738G>A
c.667-10738G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020430
chr17:55020447 C
C
 CTGTT
CTGTT
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.667-10701_667-1069
others(8): Show 
c.667-10701_667-10698dupTTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55020447
chr17:55020447 CTGTT
CTGTT
 C
C
 163 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(160): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 166 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(163): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.667-10701_667-1069
others(8): Show 
c.667-10701_667-10698delTTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55020447
chr17:55020636 G
G
 A
A
 34 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(31): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
 34 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(31): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.667-10532G>A
c.667-10532G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020636
chr17:55020637 G
G
 A
A
 1 a0001c0001t0018g0224
a0001c0001t0018g0224
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.667-10531G>A
c.667-10531G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020637
chr17:55020656 A
A
 G
G
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.667-10512A>G
c.667-10512A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55020656
chr17:55021062 A
A
 G
G
 1 a0001c0001t0014g0292
a0001c0001t0014g0292
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.667-10106A>G
c.667-10106A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021062
chr17:55021105 T
T
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.667-10063T>G
c.667-10063T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021105
chr17:55021372 A
A
 G
G
 1 a0002c0003t0079g0127
a0002c0003t0079g0127
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.667-9796A>G
c.667-9796A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021372
chr17:55021412 T
T
 A
A
 6 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0081g0108
 6 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(3): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.667-9756T>A
c.667-9756T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021412
chr17:55021478 C
C
 T
T
 2 a0001c0002t0002g0090
a0001c0002t0105g0092
a0001c0002t0002g0090
a0001c0002t0105g0092
 2 HG03491.hp1
HG04204.hp1
HG03491.hp1
HG04204.hp1
 intron_variant MODIFIER c.667-9690C>T
c.667-9690C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021478
chr17:55021637 C
C
 G
G
 1 a0001c0001t0001g0155
a0001c0001t0001g0155
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.667-9531C>G
c.667-9531C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021637
chr17:55021788 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.667-9380A>G
c.667-9380A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021788
chr17:55021827 T
T
 G
G
 1 a0004c0007t0020g0009
a0004c0007t0020g0009
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.667-9341T>G
c.667-9341T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021827
chr17:55021854 G
G
 T
T
 1 a0004c0007t0020g0010
a0004c0007t0020g0010
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.667-9314G>T
c.667-9314G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55021854
chr17:55022082 C
C
 CT
CT
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.667-9074dupT
c.667-9074dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55022082
chr17:55022082 CT
CT
 C
C
 7 a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0034g0254
others(4): Show 
a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0097g0222
a0001c0001t0098g0257
 7 HG00673.hp2
HG01109.hp1
HG01433.hp1
others(4): Show 
HG00673.hp2
HG01109.hp1
HG01433.hp1
HG03516.hp2
NA18963.hp2
NA18998.hp2
NA19006.hp2
 intron_variant MODIFIER c.667-9074delT
c.667-9074delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55022082
chr17:55022153 C
C
 T
T
 167 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(164): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 170 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(167): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.667-9015C>T
c.667-9015C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55022153
chr17:55022301 AT
AT
 A
A
 82 a0001c0001t0010g0270
a0001c0001t0012g0149
a0001c0001t0048g0346
others(79): Show 
a0001c0001t0010g0270
a0001c0001t0012g0149
a0001c0001t0048g0346
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0002c0003t0006g0145
 84 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(81): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19075.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.667-8855delT
c.667-8855delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55022301
chr17:55022337 A
A
 G
G
 1 a0002c0003t0006g0003
a0002c0003t0006g0003
 2 HG01168.hp2
HG01169.hp2
HG01168.hp2
HG01169.hp2
 intron_variant MODIFIER c.667-8831A>G
c.667-8831A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55022337
chr17:55022347 C
C
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.667-8821C>T
c.667-8821C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55022347
chr17:55022394 C
C
 T
T
 1 a0002c0003t0084g0137
a0002c0003t0084g0137
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.667-8774C>T
c.667-8774C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55022394
chr17:55022468 G
G
 A
A
 2 a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0005g0104
a0001c0002t0005g0105
 2 HG01106.hp2
HG02148.hp2
HG01106.hp2
HG02148.hp2
 intron_variant MODIFIER c.667-8700G>A
c.667-8700G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55022468
chr17:55022575 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.667-8593A>G
c.667-8593A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55022575
chr17:55022699 G
G
 A
A
 1 a0002c0003t0006g0145
a0002c0003t0006g0145
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.667-8469G>A
c.667-8469G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55022699
chr17:55022780 G
G
 GA
GA
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.667-8382dupA
c.667-8382dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55022780
chr17:55022807 T
T
 C
C
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.667-8361T>C
c.667-8361T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55022807
chr17:55023100 C
C
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.667-8068C>T
c.667-8068C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023100
chr17:55023122 G
G
 T
T
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.667-8046G>T
c.667-8046G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023122
chr17:55023255 C
C
 CCACT
CCACT
 4 a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
others(1): Show 
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0091g0225
 4 NA18951.hp2
NA18963.hp1
NA18973.hp2
others(1): Show 
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19058.hp2
 intron_variant MODIFIER c.667-7911_667-7908d
others(6): Show 
c.667-7911_667-7908dupACTC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55023255
chr17:55023490 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.667-7678A>G
c.667-7678A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023490
chr17:55023521 C
C
 G
G
 1 a0001c0001t0026g0313
a0001c0001t0026g0313
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.667-7647C>G
c.667-7647C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023521
chr17:55023570 G
G
 C
C
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.667-7598G>C
c.667-7598G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023570
chr17:55023585 G
G
 A
A
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.667-7583G>A
c.667-7583G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023585
chr17:55023593 G
G
 A
A
 107 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(104): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 108 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(105): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.667-7575G>A
c.667-7575G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023593
chr17:55023839 G
G
 A
A
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.667-7329G>A
c.667-7329G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023839
chr17:55023852 A
A
 C
C
 1 a0001c0001t0063g0040
a0001c0001t0063g0040
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.667-7316A>C
c.667-7316A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023852
chr17:55023916 C
C
 CA
CA
 16 a0001c0001t0001g0173
a0001c0001t0004g0253
a0001c0001t0009g0017
others(13): Show 
a0001c0001t0001g0173
a0001c0001t0004g0253
a0001c0001t0009g0017
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0095g0329
a0001c0001t0098g0257
a0001c0001t0106g0176
a0001c0001t0122g0150
a0002c0003t0006g0138
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0006t0092g0113
 16 HG00673.hp2
HG01433.hp1
HG02027.hp2
others(13): Show 
HG00673.hp2
HG01433.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02257.hp2
HG02630.hp1
HG02717.hp1
HG03579.hp2
HG04115.hp1
NA18522.hp2
NA18963.hp2
NA18980.hp2
NA18998.hp2
NA19011.hp1
NA19090.hp2
 intron_variant MODIFIER c.667-7228dupA
c.667-7228dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55023916
chr17:55023916 CA
CA
 C
C
 173 a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0002g0344
others(170): Show 
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0228
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0035g0167
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0114g0026
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0036
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0016g0130
a0002c0003t0051g0136
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 176 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(173): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.667-7228delA
c.667-7228delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55023916
chr17:55023933 A
A
 AG
AG
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.667-7235_667-7234i
others(3): Show 
c.667-7235_667-7234insG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55023933
chr17:55024228 T
T
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.667-6940T>C
c.667-6940T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024228
chr17:55024244 G
G
 A
A
 3 a0001c0001t0003g0305
a0001c0001t0025g0007
a0001c0001t0043g0308
a0001c0001t0003g0305
a0001c0001t0025g0007
a0001c0001t0043g0308
 4 HG02735.hp1
HG03491.hp2
HG03492.hp1
others(1): Show 
HG02735.hp1
HG03491.hp2
HG03492.hp1
HG03942.hp1
 intron_variant MODIFIER c.667-6924G>A
c.667-6924G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024244
chr17:55024299 C
C
 T
T
 1 a0001c0001t0022g0358
a0001c0001t0022g0358
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.667-6869C>T
c.667-6869C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024299
chr17:55024517 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.667-6651G>A
c.667-6651G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024517
chr17:55024607 G
G
 A
A
 1 a0009c0008t0021g0267
a0009c0008t0021g0267
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.667-6561G>A
c.667-6561G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024607
chr17:55024775 A
A
 G
G
 16 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(13): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0081g0108
a0001c0001t0090g0012
 16 HG02257.hp2
HG02647.hp1
HG02717.hp1
others(13): Show 
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.667-6393A>G
c.667-6393A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024775
chr17:55024777 A
A
 C
C
 2 a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0303
a0001c0001t0003g0304
 2 NA18939.hp1
NA18940.hp1
NA18939.hp1
NA18940.hp1
 intron_variant MODIFIER c.667-6391A>C
c.667-6391A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024777
chr17:55024865 C
C
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.667-6303C>T
c.667-6303C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024865
chr17:55024943 C
C
 G
G
 1 a0001c0002t0002g0039
a0001c0002t0002g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.667-6225C>G
c.667-6225C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024943
chr17:55024996 C
C
 G
G
 81 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(78): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.667-6172C>G
c.667-6172C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55024996
chr17:55025006 T
T
 G
G
 81 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(78): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.667-6162T>G
c.667-6162T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025006
chr17:55025017 T
T
 C
C
 1 a0002c0003t0065g0121
a0002c0003t0065g0121
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.667-6151T>C
c.667-6151T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025017
chr17:55025092 G
G
 T
T
 6 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0081g0108
 6 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(3): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.667-6076G>T
c.667-6076G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025092
chr17:55025136 G
G
 A
A
 1 a0001c0001t0058g0255
a0001c0001t0058g0255
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.667-6032G>A
c.667-6032G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025136
chr17:55025140 C
C
 CA
CA
 45 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(42): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0173
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0106g0176
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0129g0161
a0001c0011t0001g0156
a0006c0013t0001g0182
 46 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(43): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00738.hp2
HG01070.hp2
HG01243.hp2
HG01261.hp2
HG01934.hp1
HG01952.hp2
HG02056.hp1
HG02080.hp1
HG02129.hp1
HG02155.hp1
NA18940.hp2
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18980.hp2
NA18981.hp2
NA18986.hp1
NA18991.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.667-6017dupA
c.667-6017dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55025140
chr17:55025140 CA
CA
 C
C
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.667-6017delA
c.667-6017delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55025140
chr17:55025164 T
T
 A
A
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.667-6004T>A
c.667-6004T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025164
chr17:55025324 T
T
 C
C
 1 a0001c0002t0004g0085
a0001c0002t0004g0085
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.667-5844T>C
c.667-5844T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025324
chr17:55025408 T
T
 C
C
 1 a0001c0001t0004g0253
a0001c0001t0004g0253
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.667-5760T>C
c.667-5760T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025408
chr17:55025532 T
T
 A
A
 1 a0001c0001t0024g0307
a0001c0001t0024g0307
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.667-5636T>A
c.667-5636T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025532
chr17:55025539 C
C
 T
T
 47 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(44): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0017g0288
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0041g0293
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0046g0281
a0001c0001t0049g0310
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0009t0003g0297
a0007c0010t0003g0298
 48 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(45): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01993.hp2
HG02004.hp2
HG02132.hp2
HG02300.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp2
NA18939.hp1
NA18940.hp1
NA18945.hp1
NA18953.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19062.hp1
NA19065.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
 intron_variant MODIFIER c.667-5629C>T
c.667-5629C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025539
chr17:55025587 C
C
 T
T
 1 a0001c0001t0018g0223
a0001c0001t0018g0223
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.667-5581C>T
c.667-5581C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025587
chr17:55025757 A
A
 G
G
 1 a0001c0002t0002g0052
a0001c0002t0002g0052
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.667-5411A>G
c.667-5411A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025757
chr17:55025769 G
G
 A
A
 1 a0001c0001t0001g0219
a0001c0001t0001g0219
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.667-5399G>A
c.667-5399G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025769
chr17:55025828 C
C
 A
A
 1 a0001c0001t0008g0338
a0001c0001t0008g0338
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.667-5340C>A
c.667-5340C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55025828
chr17:55026003 A
A
 G
G
 13 a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
others(10): Show 
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0309
a0001c0001t0003g0318
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0017g0288
a0001c0001t0024g0307
 13 HG00423.hp2
NA18939.hp1
NA18940.hp1
others(10): Show 
HG00423.hp2
NA18939.hp1
NA18940.hp1
NA18953.hp2
NA18977.hp2
NA18993.hp1
NA19005.hp1
NA19007.hp2
NA19056.hp1
NA19062.hp1
NA19065.hp2
NA19080.hp1
NA19085.hp1
 intron_variant MODIFIER c.667-5165A>G
c.667-5165A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026003
chr17:55026070 A
A
 T
T
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.667-5098A>T
c.667-5098A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026070
chr17:55026080 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.667-5088A>G
c.667-5088A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026080
chr17:55026104 A
A
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.667-5064A>G
c.667-5064A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026104
chr17:55026189 C
C
 T
T
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.667-4979C>T
c.667-4979C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026189
chr17:55026226 A
A
 G
G
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.667-4942A>G
c.667-4942A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026226
chr17:55026237 A
A
 G
G
 81 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(78): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.667-4931A>G
c.667-4931A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026237
chr17:55026489 C
C
 T
T
 2 a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0016g0004
a0002c0003t0016g0147
 3 HG01928.hp1
HG01993.hp1
HG02273.hp2
HG01928.hp1
HG01993.hp1
HG02273.hp2
 intron_variant MODIFIER c.667-4679C>T
c.667-4679C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026489
chr17:55026532 G
G
 A
A
 7 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(4): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
 7 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(4): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.667-4636G>A
c.667-4636G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026532
chr17:55026541 C
C
 A
A
 1 a0001c0001t0043g0308
a0001c0001t0043g0308
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.667-4627C>A
c.667-4627C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026541
chr17:55026718 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.667-4450A>G
c.667-4450A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026718
chr17:55026884 C
C
 T
T
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.667-4284C>T
c.667-4284C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026884
chr17:55026921 T
T
 A
A
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.667-4247T>A
c.667-4247T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026921
chr17:55026929 G
G
 A
A
 1 a0001c0001t0007g0196
a0001c0001t0007g0196
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.667-4239G>A
c.667-4239G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026929
chr17:55026935 C
C
 G
G
 7 a0001c0002t0002g0001
a0001c0002t0002g0041
a0001c0002t0002g0049
others(4): Show 
a0001c0002t0002g0001
a0001c0002t0002g0041
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0061
 8 HG02040.hp1
HG02165.hp2
NA18948.hp2
others(5): Show 
HG02040.hp1
HG02165.hp2
NA18948.hp2
NA18979.hp2
NA18980.hp1
NA18984.hp1
NA19084.hp1
NA19086.hp2
 intron_variant MODIFIER c.667-4233C>G
c.667-4233C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55026935
chr17:55027097 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.667-4071A>G
c.667-4071A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027097
chr17:55027398 C
C
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.667-3770C>T
c.667-3770C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027398
chr17:55027477 G
G
 A
A
 1 a0001c0001t0080g0114
a0001c0001t0080g0114
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.667-3691G>A
c.667-3691G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027477
chr17:55027516 A
A
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.667-3652A>G
c.667-3652A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027516
chr17:55027522 C
C
 T
T
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.667-3646C>T
c.667-3646C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027522
chr17:55027580 A
A
 G
G
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.667-3588A>G
c.667-3588A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027580
chr17:55027670 T
T
 C
C
 1 a0001c0002t0002g0090
a0001c0002t0002g0090
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.667-3498T>C
c.667-3498T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027670
chr17:55027674 T
T
 C
C
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.667-3494T>C
c.667-3494T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027674
chr17:55027758 G
G
 T
T
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
 36 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(33): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.667-3410G>T
c.667-3410G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027758
chr17:55027791 C
C
 T
T
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.667-3377C>T
c.667-3377C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027791
chr17:55027860 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.667-3308T>C
c.667-3308T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027860
chr17:55027915 G
G
 A
A
 1 a0001c0001t0062g0246
a0001c0001t0062g0246
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.667-3253G>A
c.667-3253G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55027915
chr17:55028063 A
A
 C
C
 10 a0001c0001t0008g0332
a0001c0001t0008g0352
a0001c0001t0008g0353
others(7): Show 
a0001c0001t0008g0332
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0022g0358
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0042g0355
a0001c0001t0050g0360
 10 HG02109.hp1
HG02145.hp1
HG02451.hp1
others(7): Show 
HG02109.hp1
HG02145.hp1
HG02451.hp1
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.667-3105A>C
c.667-3105A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55028063
chr17:55028063 A
A
 G
G
 1 a0001c0011t0001g0156
a0001c0011t0001g0156
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.667-3105A>G
c.667-3105A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55028063
chr17:55028295 T
T
 C
C
 1 a0001c0001t0001g0164
a0001c0001t0001g0164
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.667-2873T>C
c.667-2873T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55028295
chr17:55028481 A
A
 C
C
 1 a0003c0004t0015g0278
a0003c0004t0015g0278
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.667-2687A>C
c.667-2687A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55028481
chr17:55028617 T
T
 C
C
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.667-2551T>C
c.667-2551T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55028617
chr17:55028844 AG
AG
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.667-2322delG
c.667-2322delG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55028844
chr17:55029050 T
T
 TA
TA
 108 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(105): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 109 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(106): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18963.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.667-2108dupA
c.667-2108dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 INFO_REALIGN_3_PRIME chr17 55029050
chr17:55029074 G
G
 A
A
 21 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(18): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 21 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(18): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.667-2094G>A
c.667-2094G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55029074
chr17:55029399 C
C
 T
T
 1 a0001c0002t0005g0102
a0001c0002t0005g0102
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.667-1769C>T
c.667-1769C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55029399
chr17:55029400 G
G
 A
A
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
 36 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(33): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.667-1768G>A
c.667-1768G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55029400
chr17:55029465 A
A
 T
T
 1 a0001c0002t0002g0043
a0001c0002t0002g0043
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.667-1703A>T
c.667-1703A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55029465
chr17:55029480 T
T
 C
C
 2 a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0303
a0001c0001t0003g0304
 2 NA18939.hp1
NA18940.hp1
NA18939.hp1
NA18940.hp1
 intron_variant MODIFIER c.667-1688T>C
c.667-1688T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55029480
chr17:55029935 G
G
 A
A
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.667-1233G>A
c.667-1233G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55029935
chr17:55029977 A
A
 G
G
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.667-1191A>G
c.667-1191A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55029977
chr17:55030071 T
T
 C
C
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.667-1097T>C
c.667-1097T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55030071
chr17:55030389 A
A
 C
C
 1 a0002c0003t0006g0003
a0002c0003t0006g0003
 2 HG01168.hp2
HG01169.hp2
HG01168.hp2
HG01169.hp2
 intron_variant MODIFIER c.667-779A>C
c.667-779A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55030389
chr17:55030558 A
A
 G
G
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.667-610A>G
c.667-610A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55030558
chr17:55030742 A
A
 G
G
 1 a0002c0003t0006g0135
a0002c0003t0006g0135
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.667-426A>G
c.667-426A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55030742
chr17:55030799 T
T
 A
A
 7 a0001c0001t0014g0336
a0001c0001t0017g0351
a0001c0001t0017g0368
others(4): Show 
a0001c0001t0014g0336
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
 7 NA18941.hp1
NA18962.hp1
NA18973.hp1
others(4): Show 
NA18941.hp1
NA18962.hp1
NA18973.hp1
NA18991.hp2
NA19004.hp1
NA19056.hp2
NA19063.hp1
 intron_variant MODIFIER c.667-369T>A
c.667-369T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55030799
chr17:55031025 A
A
 T
T
 2 a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0030g0126
a0002c0003t0030g0128
 2 HG01123.hp2
HG01517.hp2
HG01123.hp2
HG01517.hp2
 intron_variant MODIFIER c.667-143A>T
c.667-143A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 8/17 chr17 55031025
chr17:55031400 A
A
 T
T
 3 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
 3 HG02257.hp1
HG02723.hp1
HG03540.hp2
HG02257.hp1
HG02723.hp1
HG03540.hp2
 intron_variant MODIFIER c.763+136A>T
c.763+136A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55031400
chr17:55031450 GA
GA
 G
G
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.763+189delA
c.763+189delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 INFO_REALIGN_3_PRIME chr17 55031450
chr17:55031815 G
G
 A
A
 81 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(78): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.763+551G>A
c.763+551G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55031815
chr17:55031884 T
T
 C
C
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.763+620T>C
c.763+620T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55031884
chr17:55031890 G
G
 A
A
 1 a0001c0002t0005g0101
a0001c0002t0005g0101
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.763+626G>A
c.763+626G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55031890
chr17:55031995 G
G
 T
T
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.763+731G>T
c.763+731G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55031995
chr17:55032234 A
A
 G
G
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.763+970A>G
c.763+970A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55032234
chr17:55032246 GA
GA
 G
G
 42 a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
others(39): Show 
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0102g0056
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0125g0042
a0001c0002t0128g0057
 44 HG00621.hp2
HG02027.hp1
HG02040.hp1
others(41): Show 
HG00621.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02165.hp2
HG02572.hp1
HG02735.hp2
HG03098.hp1
HG03225.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.763+990delA
c.763+990delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 INFO_REALIGN_3_PRIME chr17 55032246
chr17:55032521 C
C
 G
G
 2 a0001c0001t0031g0269
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0132g0268
 2 HG02280.hp2
HG02965.hp1
HG02280.hp2
HG02965.hp1
 intron_variant MODIFIER c.763+1257C>G
c.763+1257C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55032521
chr17:55032646 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.763+1382C>T
c.763+1382C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55032646
chr17:55032688 A
A
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.763+1424A>T
c.763+1424A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55032688
chr17:55032711 T
T
 C
C
 107 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(104): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 108 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(105): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.763+1447T>C
c.763+1447T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55032711
chr17:55032911 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.764-1257A>G
c.764-1257A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55032911
chr17:55033185 C
C
 G
G
 2 a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0230
a0001c0001t0012g0231
 2 HG02976.hp2
HG03471.hp2
HG02976.hp2
HG03471.hp2
 intron_variant MODIFIER c.764-983C>G
c.764-983C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55033185
chr17:55033326 A
A
 G
G
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.764-842A>G
c.764-842A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55033326
chr17:55033328 C
C
 T
T
 1 a0001c0001t0056g0312
a0001c0001t0056g0312
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.764-840C>T
c.764-840C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55033328
chr17:55033353 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.764-815G>A
c.764-815G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55033353
chr17:55033499 C
C
 T
T
 4 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(1): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 4 HG02257.hp2
HG02717.hp1
NA18522.hp2
others(1): Show 
HG02257.hp2
HG02717.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.764-669C>T
c.764-669C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55033499
chr17:55033593 C
C
 T
T
 2 a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0039g0032
a0001c0002t0039g0037
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 intron_variant MODIFIER c.764-575C>T
c.764-575C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55033593
chr17:55033760 T
T
 C
C
 277 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(274): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 281 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(278): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.764-408T>C
c.764-408T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55033760
chr17:55033866 G
G
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.764-302G>T
c.764-302G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55033866
chr17:55034022 A
A
 C
C
 313 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(310): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 317 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(314): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.764-146A>C
c.764-146A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55034022
chr17:55034100 A
A
 G
G
 1 a0001c0001t0055g0323
a0001c0001t0055g0323
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.764-68A>G
c.764-68A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 9/17 chr17 55034100
chr17:55034397 A
A
 G
G
 1 a0002c0003t0006g0119
a0002c0003t0006g0119
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.855+138A>G
c.855+138A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55034397
chr17:55034572 A
A
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.855+313A>G
c.855+313A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55034572
chr17:55034727 C
C
 T
T
 1 a0001c0001t0001g0209
a0001c0001t0001g0209
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.855+468C>T
c.855+468C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55034727
chr17:55034831 G
G
 A
A
 87 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(84): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 89 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(86): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18963.hp2
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.855+572G>A
c.855+572G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55034831
chr17:55034833 G
G
 T
T
 1 a0001c0002t0005g0089
a0001c0002t0005g0089
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.855+574G>T
c.855+574G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55034833
chr17:55034862 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.855+603A>G
c.855+603A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55034862
chr17:55035024 G
G
 A
A
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.855+765G>A
c.855+765G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55035024
chr17:55035154 A
A
 G
G
 1 a0003c0004t0013g0265
a0003c0004t0013g0265
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.855+895A>G
c.855+895A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55035154
chr17:55035400 T
T
 C
C
 1 a0001c0002t0005g0091
a0001c0002t0005g0091
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.855+1141T>C
c.855+1141T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55035400
chr17:55035616 A
A
 G
G
 1 a0003c0004t0021g0331
a0003c0004t0021g0331
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.855+1357A>G
c.855+1357A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55035616
chr17:55035823 A
A
 G
G
 4 a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
others(1): Show 
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0090g0012
 4 HG02809.hp2
HG02922.hp1
HG02970.hp2
others(1): Show 
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
 intron_variant MODIFIER c.855+1564A>G
c.855+1564A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55035823
chr17:55036031 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.855+1772G>A
c.855+1772G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55036031
chr17:55036063 C
C
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.855+1804C>T
c.855+1804C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55036063
chr17:55036202 C
C
 G
G
 1 a0001c0001t0097g0222
a0001c0001t0097g0222
 1 NA19006.hp2
NA19006.hp2
 intron_variant MODIFIER c.855+1943C>G
c.855+1943C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55036202
chr17:55036288 G
G
 A
A
 1 a0001c0002t0002g0044
a0001c0002t0002g0044
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.855+2029G>A
c.855+2029G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55036288
chr17:55036407 T
T
 TAG
TAG
 160 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(157): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 163 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(160): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.855+2149_855+2150i
others(4): Show 
c.855+2149_855+2150insGA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55036407
chr17:55036718 G
G
 T
T
 1 a0002c0003t0006g0140
a0002c0003t0006g0140
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.855+2459G>T
c.855+2459G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55036718
chr17:55036983 T
T
 A
A
 2 a0001c0001t0003g0305
a0001c0001t0043g0308
a0001c0001t0003g0305
a0001c0001t0043g0308
 2 HG02735.hp1
HG03942.hp1
HG02735.hp1
HG03942.hp1
 intron_variant MODIFIER c.855+2724T>A
c.855+2724T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55036983
chr17:55037118 A
A
 T
T
 1 a0001c0001t0018g0223
a0001c0001t0018g0223
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.855+2859A>T
c.855+2859A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55037118
chr17:55037280 T
T
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.855+3021T>C
c.855+3021T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55037280
chr17:55037338 A
A
 G
G
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.855+3079A>G
c.855+3079A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55037338
chr17:55037392 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.855+3133G>A
c.855+3133G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55037392
chr17:55037444 T
T
 C
C
 1 a0001c0002t0005g0102
a0001c0002t0005g0102
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.855+3185T>C
c.855+3185T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55037444
chr17:55037491 TA
TA
 T
T
 81 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(78): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.855+3242delA
c.855+3242delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55037491
chr17:55037618 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.855+3359G>A
c.855+3359G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55037618
chr17:55037674 C
C
 T
T
 2 a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0037g0047
a0001c0002t0037g0048
 2 NA18957.hp1
NA19079.hp1
NA18957.hp1
NA19079.hp1
 intron_variant MODIFIER c.855+3415C>T
c.855+3415C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55037674
chr17:55038058 G
G
 A
A
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.855+3799G>A
c.855+3799G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038058
chr17:55038115 T
T
 C
C
 86 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(83): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 88 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(85): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18963.hp2
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.855+3856T>C
c.855+3856T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038115
chr17:55038364 G
G
 T
T
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.855+4105G>T
c.855+4105G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038364
chr17:55038495 G
G
 A
A
 2 a0001c0001t0031g0269
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0132g0268
 2 HG02280.hp2
HG02965.hp1
HG02280.hp2
HG02965.hp1
 intron_variant MODIFIER c.855+4236G>A
c.855+4236G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038495
chr17:55038533 A
A
 G
G
 1 a0001c0001t0121g0190
a0001c0001t0121g0190
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.855+4274A>G
c.855+4274A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038533
chr17:55038547 A
A
 G
G
 4 a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
others(1): Show 
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0002c0003t0088g0125
 4 HG01109.hp2
HG01123.hp2
HG01517.hp2
others(1): Show 
HG01109.hp2
HG01123.hp2
HG01517.hp2
HG02055.hp2
 intron_variant MODIFIER c.855+4288A>G
c.855+4288A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038547
chr17:55038596 A
A
 G
G
 1 a0001c0001t0090g0012
a0001c0001t0090g0012
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.855+4337A>G
c.855+4337A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038596
chr17:55038621 TCA
TCA
 T
T
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.855+4367_855+4368d
others(4): Show 
c.855+4367_855+4368delCA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038621
chr17:55038646 G
G
 T
T
 1 a0001c0001t0080g0114
a0001c0001t0080g0114
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.855+4387G>T
c.855+4387G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038646
chr17:55038729 T
T
 TCATAGTA
others(334): Show 
TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTG
GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT
CCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC
CCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA
GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC
CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
 1 a0003c0004t0015g0279
a0003c0004t0015g0279
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.855+4484_855+4485i
others(343): Show 
c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGAC
TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG
CCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCC
ACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC
CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT
CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC
ATAGTATGATTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038729
chr17:55038729 T
T
 TCATAGTA
others(340): Show 
TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACT
GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC
CATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCA
CCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC
TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC
GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
 1 a0003c0004t0020g0276
a0003c0004t0020g0276
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.855+4484_855+4485i
others(349): Show 
c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACT
GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG
TTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCG
CCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGG
TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC
CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC
CGGCCCATAGTATGATTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038729
chr17:55038729 T
T
 TCATAGTA
others(341): Show 
TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGAC
TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG
CCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCC
ACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC
CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT
CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
 6 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0265
others(3): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0031g0261
a0003c0004t0131g0264
 6 HG02109.hp2
HG02622.hp1
HG02970.hp1
others(3): Show 
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.855+4484_855+4485i
others(350): Show 
c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGAC
TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG
GTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGC
GCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGG
GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA
CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC
CCGGCCCATAGTATGATTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038729
chr17:55038729 T
T
 TCATAGTA
others(342): Show 
TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGA
CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC
GCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGC
CACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA
CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC
TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
 1 a0003c0004t0013g0263
a0003c0004t0013g0263
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.855+4484_855+4485i
others(351): Show 
c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGA
CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG
GGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGG
CGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGG
GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC
ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG
CCCGGCCCATAGTATGATTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038729
chr17:55038729 T
T
 TCATAGTA
others(348): Show 
TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGAC
TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG
GTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGC
GCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGG
GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA
CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC
CCGGCC
 1 a0003c0004t0015g0278
a0003c0004t0015g0278
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.855+4484_855+4485i
others(357): Show 
c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG
GCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC
TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGAC
TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAG
AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA
TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC
ACCGCGCCCGGCCCATAGTATGATTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038729
chr17:55038729 T
T
 TCATAGTA
others(349): Show 
TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGA
CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG
GGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGG
CGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGG
GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC
ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG
CCCGGCC
 2 a0003c0004t0015g0370
a0003c0004t0076g0371
a0003c0004t0015g0370
a0003c0004t0076g0371
 2 HG01243.hp1
HG03130.hp2
HG01243.hp1
HG03130.hp2
 intron_variant MODIFIER c.855+4484_855+4485i
others(358): Show 
c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA
GGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG
CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGA
CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTA
GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC
ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC
CACCGCGCCCGGCCCATAGTATGATTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038729
chr17:55038729 T
T
 TCATAGTA
others(351): Show 
TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA
GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC
CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACA
GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC
GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT
CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG
CGCCCGGCC
 1 a0003c0004t0015g0367
a0003c0004t0015g0367
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.855+4484_855+4485i
others(360): Show 
c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC
CAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC
CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGG
GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAG
TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC
TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA
GCCACCGCGCCCGGCCCATAGTATGATTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038729
chr17:55038729 T
T
 TCATAGTA
others(352): Show 
TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC
AGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC
CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTAC
AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGA
CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA
TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC
GCGCCCGGCC
 1 a0003c0004t0070g0277
a0003c0004t0070g0277
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.855+4484_855+4485i
others(361): Show 
c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC
CCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT
CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTG
GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTA
GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC
CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG
AGCCACCGCGCCCGGCCCATAGTATGATTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55038729
chr17:55038841 T
T
 C
C
 1 a0001c0001t0019g0015
a0001c0001t0019g0015
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.856-4395T>C
c.856-4395T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55038841
chr17:55039071 T
T
 A
A
 1 a0002c0003t0006g0119
a0002c0003t0006g0119
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.856-4165T>A
c.856-4165T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039071
chr17:55039082 T
T
 A
A
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.856-4154T>A
c.856-4154T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039082
chr17:55039109 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.856-4127A>G
c.856-4127A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039109
chr17:55039284 G
G
 A
A
 1 a0002c0003t0006g0119
a0002c0003t0006g0119
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.856-3952G>A
c.856-3952G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039284
chr17:55039342 C
C
 G
G
 10 a0001c0001t0002g0344
a0001c0001t0008g0333
a0001c0001t0008g0340
others(7): Show 
a0001c0001t0002g0344
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0022g0330
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0048g0346
 10 NA18942.hp1
NA18946.hp1
NA18968.hp2
others(7): Show 
NA18942.hp1
NA18946.hp1
NA18968.hp2
NA18983.hp1
NA19006.hp1
NA19009.hp1
NA19057.hp1
NA19068.hp1
NA19070.hp1
NA19075.hp2
 intron_variant MODIFIER c.856-3894C>G
c.856-3894C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039342
chr17:55039347 T
T
 TA
TA
 325 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(322): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
 329 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(326): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.856-3878dupA
c.856-3878dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55039347
chr17:55039347 T
T
 TAA
TAA
 8 a0001c0001t0010g0270
a0003c0004t0021g0331
a0003c0004t0028g0361
others(5): Show 
a0001c0001t0010g0270
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0009c0008t0021g0267
 8 HG01081.hp2
HG02257.hp1
HG02630.hp2
others(5): Show 
HG01081.hp2
HG02257.hp1
HG02630.hp2
HG02683.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
NA19043.hp2
 intron_variant MODIFIER c.856-3879_856-3878d
others(4): Show 
c.856-3879_856-3878dupAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55039347
chr17:55039510 T
T
 C
C
 4 a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
others(1): Show 
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
 4 NA18962.hp1
NA18973.hp1
NA18991.hp2
others(1): Show 
NA18962.hp1
NA18973.hp1
NA18991.hp2
NA19004.hp1
 intron_variant MODIFIER c.856-3726T>C
c.856-3726T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039510
chr17:55039722 T
T
 G
G
 1 a0002c0003t0006g0119
a0002c0003t0006g0119
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.856-3514T>G
c.856-3514T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039722
chr17:55039739 TA
TA
 T
T
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.856-3486delA
c.856-3486delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55039739
chr17:55039750 A
A
 C
C
 1 a0001c0001t0010g0320
a0001c0001t0010g0320
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.856-3486A>C
c.856-3486A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039750
chr17:55039837 A
A
 G
G
 1 a0001c0001t0008g0338
a0001c0001t0008g0338
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.856-3399A>G
c.856-3399A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039837
chr17:55039969 G
G
 C
C
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.856-3267G>C
c.856-3267G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55039969
chr17:55040350 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.856-2886A>G
c.856-2886A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55040350
chr17:55040740 C
C
 T
T
 1 a0001c0001t0003g0321
a0001c0001t0003g0321
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.856-2496C>T
c.856-2496C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55040740
chr17:55040744 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.856-2492A>G
c.856-2492A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55040744
chr17:55040795 G
G
 T
T
 1 a0001c0002t0005g0096
a0001c0002t0005g0096
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.856-2441G>T
c.856-2441G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55040795
chr17:55040911 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.856-2325A>G
c.856-2325A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55040911
chr17:55040991 A
A
 G
G
 3 a0001c0002t0005g0093
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0005g0093
a0001c0002t0005g0104
a0001c0002t0005g0105
 3 HG01106.hp2
HG02148.hp2
HG02683.hp2
HG01106.hp2
HG02148.hp2
HG02683.hp2
 intron_variant MODIFIER c.856-2245A>G
c.856-2245A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55040991
chr17:55041069 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.856-2167G>A
c.856-2167G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55041069
chr17:55041127 A
A
 G
G
 1 a0001c0001t0026g0311
a0001c0001t0026g0311
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.856-2109A>G
c.856-2109A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55041127
chr17:55041228 C
C
 CT
CT
 58 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(55): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0173
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0002g0344
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0253
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0348
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0154
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0061g0239
a0001c0001t0093g0237
a0001c0001t0101g0005
a0001c0001t0114g0026
a0001c0001t0120g0184
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0002t0001g0094
a0001c0002t0002g0039
a0001c0002t0002g0070
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0054g0141
a0002c0003t0084g0137
a0002c0003t0089g0143
a0006c0013t0001g0182
 59 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(56): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00639.hp2
HG00738.hp2
HG01070.hp2
HG01123.hp1
HG01243.hp2
HG01261.hp2
HG01934.hp1
HG01952.hp2
HG02027.hp2
HG02056.hp1
HG02080.hp1
HG02559.hp1
HG02572.hp2
HG02738.hp1
HG02809.hp1
HG03098.hp1
HG03130.hp1
HG04115.hp1
HG04184.hp1
NA18940.hp2
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18961.hp2
NA18964.hp1
NA18969.hp1
NA18975.hp1
NA18980.hp2
NA18981.hp2
NA18986.hp1
NA18991.hp1
NA18993.hp2
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp2
NA19074.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.856-1987dupT
c.856-1987dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55041228
chr17:55041228 CT
CT
 C
C
 56 a0001c0001t0001g0084
a0001c0001t0001g0198
a0001c0001t0009g0017
others(53): Show 
a0001c0001t0001g0084
a0001c0001t0001g0198
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0071g0109
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0002t0002g0061
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0011g0118
a0002c0003t0011g0120
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0094g0022
a0009c0008t0021g0267
 57 HG00673.hp2
HG01081.hp2
HG01168.hp2
others(54): Show 
HG00673.hp2
HG01081.hp2
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01433.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18948.hp2
NA18963.hp2
NA18998.hp2
NA19030.hp1
NA19043.hp1
NA19062.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.856-1987delT
c.856-1987delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55041228
chr17:55041235 T
T
 G
G
 2 a0001c0001t0073g0259
a0001c0001t0096g0062
a0001c0001t0073g0259
a0001c0001t0096g0062
 2 HG02976.hp1
HG04228.hp2
HG02976.hp1
HG04228.hp2
 intron_variant MODIFIER c.856-2001T>G
c.856-2001T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55041235
chr17:55041369 G
G
 A
A
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
 36 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(33): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.856-1867G>A
c.856-1867G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55041369
chr17:55041767 A
A
 G
G
 1 a0001c0002t0005g0102
a0001c0002t0005g0102
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.856-1469A>G
c.856-1469A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55041767
chr17:55041930 C
C
 A
A
 1 a0001c0002t0002g0064
a0001c0002t0002g0064
 1 NA18982.hp2
NA18982.hp2
 intron_variant MODIFIER c.856-1306C>A
c.856-1306C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55041930
chr17:55042107 C
C
 T
T
 3 a0001c0001t0018g0221
a0001c0001t0097g0222
a0001c0002t0109g0060
a0001c0001t0018g0221
a0001c0001t0097g0222
a0001c0002t0109g0060
 3 HG01109.hp1
HG02071.hp2
NA19006.hp2
HG01109.hp1
HG02071.hp2
NA19006.hp2
 intron_variant MODIFIER c.856-1129C>T
c.856-1129C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55042107
chr17:55042191 C
C
 T
T
 1 a0001c0001t0035g0167
a0001c0001t0035g0167
 1 NA18991.hp1
NA18991.hp1
 intron_variant MODIFIER c.856-1045C>T
c.856-1045C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55042191
chr17:55042271 C
C
 A
A
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.856-965C>A
c.856-965C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55042271
chr17:55042403 TATTA
TATTA
 T
T
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.856-829_856-826del
others(4): Show 
c.856-829_856-826delAATT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 INFO_REALIGN_3_PRIME chr17 55042403
chr17:55042635 A
A
 T
T
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.856-601A>T
c.856-601A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55042635
chr17:55042801 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.856-435G>A
c.856-435G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55042801
chr17:55042835 C
C
 T
T
 2 a0002c0003t0006g0145
a0002c0003t0011g0131
a0002c0003t0006g0145
a0002c0003t0011g0131
 2 HG02258.hp2
NA18978.hp1
HG02258.hp2
NA18978.hp1
 intron_variant MODIFIER c.856-401C>T
c.856-401C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55042835
chr17:55042842 A
A
 G
G
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.856-394A>G
c.856-394A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55042842
chr17:55042891 T
T
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.856-345T>C
c.856-345T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55042891
chr17:55043030 T
T
 G
G
 1 a0001c0001t0097g0222
a0001c0001t0097g0222
 1 NA19006.hp2
NA19006.hp2
 intron_variant MODIFIER c.856-206T>G
c.856-206T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55043030
chr17:55043158 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.856-78G>A
c.856-78G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 10/17 chr17 55043158
chr17:55043377 A
A
 G
G
 3 a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
 3 NA18975.hp2
NA19002.hp1
NA19088.hp1
NA18975.hp2
NA19002.hp1
NA19088.hp1
 intron_variant MODIFIER c.945+52A>G
c.945+52A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55043377
chr17:55043464 T
T
 C
C
 1 a0001c0001t0095g0329
a0001c0001t0095g0329
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.945+139T>C
c.945+139T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55043464
chr17:55043494 A
A
 G
G
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.945+169A>G
c.945+169A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55043494
chr17:55043564 T
T
 C
C
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.945+239T>C
c.945+239T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55043564
chr17:55043645 AG
AG
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.945+321delG
c.945+321delG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55043645
chr17:55043659 A
A
 G
G
 81 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(78): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.945+334A>G
c.945+334A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55043659
chr17:55043888 G
G
 A
A
 2 a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0016g0004
a0002c0003t0016g0147
 3 HG01928.hp1
HG01993.hp1
HG02273.hp2
HG01928.hp1
HG01993.hp1
HG02273.hp2
 intron_variant MODIFIER c.945+563G>A
c.945+563G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55043888
chr17:55044011 A
A
 G
G
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.945+686A>G
c.945+686A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044011
chr17:55044014 A
A
 G
G
 1 a0001c0001t0007g0195
a0001c0001t0007g0195
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.945+689A>G
c.945+689A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044014
chr17:55044193 A
A
 G
G
 1 a0001c0001t0129g0161
a0001c0001t0129g0161
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.945+868A>G
c.945+868A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044193
chr17:55044385 A
A
 G
G
 4 a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
others(1): Show 
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0002c0003t0088g0125
 4 HG01109.hp2
HG01123.hp2
HG01517.hp2
others(1): Show 
HG01109.hp2
HG01123.hp2
HG01517.hp2
HG02055.hp2
 intron_variant MODIFIER c.945+1060A>G
c.945+1060A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044385
chr17:55044400 T
T
 C
C
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.945+1075T>C
c.945+1075T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044400
chr17:55044409 A
A
 C
C
 95 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(92): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0011t0001g0156
a0006c0013t0001g0182
 96 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(93): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18963.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.945+1084A>C
c.945+1084A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044409
chr17:55044546 C
C
 T
T
 190 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(187): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 193 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(190): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.945+1221C>T
c.945+1221C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044546
chr17:55044638 T
T
 C
C
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.945+1313T>C
c.945+1313T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044638
chr17:55044806 T
T
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.945+1481T>C
c.945+1481T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044806
chr17:55044859 C
C
 T
T
 4 a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
others(1): Show 
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0104g0077
 4 HG00280.hp1
HG01123.hp1
HG01169.hp1
others(1): Show 
HG00280.hp1
HG01123.hp1
HG01169.hp1
HG01517.hp1
 intron_variant MODIFIER c.945+1534C>T
c.945+1534C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044859
chr17:55044893 G
G
 A
A
 4 a0001c0002t0002g0035
a0001c0002t0002g0053
a0001c0002t0002g0054
others(1): Show 
a0001c0002t0002g0035
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0008g0038
 4 NA18942.hp2
NA18947.hp2
NA18992.hp1
others(1): Show 
NA18942.hp2
NA18947.hp2
NA18992.hp1
NA19066.hp2
 intron_variant MODIFIER c.945+1568G>A
c.945+1568G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55044893
chr17:55045381 A
A
 G
G
 6 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0081g0108
 6 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(3): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.946-1708A>G
c.946-1708A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55045381
chr17:55045455 C
C
 G
G
 81 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(78): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.946-1634C>G
c.946-1634C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55045455
chr17:55045498 T
T
 C
C
 1 a0001c0002t0002g0058
a0001c0002t0002g0058
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.946-1591T>C
c.946-1591T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55045498
chr17:55045946 G
G
 A
A
 1 a0001c0002t0004g0085
a0001c0002t0004g0085
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.946-1143G>A
c.946-1143G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55045946
chr17:55046212 C
C
 G
G
 312 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(309): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 316 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(313): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.946-877C>G
c.946-877C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55046212
chr17:55046960 C
C
 T
T
 3 a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0016g0130
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0016g0130
 3 HG01070.hp1
HG01071.hp1
HG01358.hp1
HG01070.hp1
HG01071.hp1
HG01358.hp1
 intron_variant MODIFIER c.946-129C>T
c.946-129C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55046960
chr17:55047027 A
A
 G
G
 1 a0002c0003t0011g0120
a0002c0003t0011g0120
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.946-62A>G
c.946-62A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 11/17 chr17 55047027
chr17:55047185 C
C
 CGT
CGT
 72 a0001c0001t0001g0160
a0001c0001t0001g0172
a0001c0001t0003g0211
others(69): Show 
a0001c0001t0001g0160
a0001c0001t0001g0172
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0008g0332
a0001c0001t0008g0338
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0231
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0358
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0036g0153
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0047g0366
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0119g0148
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0007c0010t0003g0298
 73 HG00280.hp2
HG00621.hp1
HG01074.hp2
others(70): Show 
HG00280.hp2
HG00621.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02165.hp1
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02735.hp1
HG02886.hp1
HG02895.hp2
HG02976.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18945.hp1
NA18953.hp2
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19074.hp1
NA19075.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19088.hp1
NA20129.hp1
 intron_variant MODIFIER c.1011+63_1011+64dup
others(2): Show 
c.1011+63_1011+64dupTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 C
C
 CGTGT
CGTGT
 21 a0001c0001t0002g0344
a0001c0001t0003g0302
a0001c0001t0003g0321
others(18): Show 
a0001c0001t0002g0344
a0001c0001t0003g0302
a0001c0001t0003g0321
a0001c0001t0006g0306
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0022g0330
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0026g0311
a0001c0001t0031g0269
a0001c0001t0046g0281
a0001c0001t0048g0346
a0001c0001t0071g0109
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0132g0268
a0003c0006t0092g0113
 21 HG00423.hp2
HG00733.hp1
HG02280.hp2
others(18): Show 
HG00423.hp2
HG00733.hp1
HG02280.hp2
HG02630.hp1
HG02698.hp1
HG02738.hp1
HG02965.hp1
HG02976.hp1
HG03516.hp1
HG03579.hp2
NA18942.hp1
NA18946.hp1
NA18968.hp2
NA18983.hp1
NA19006.hp1
NA19009.hp1
NA19057.hp1
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19084.hp2
 intron_variant MODIFIER c.1011+61_1011+64dup
others(4): Show 
c.1011+61_1011+64dupTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 C
C
 CGTGTGT
CGTGTGT
 5 a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0073g0259
others(2): Show 
a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0075g0271
a0003c0006t0094g0022
 5 HG02486.hp1
HG02559.hp2
HG02965.hp2
others(2): Show 
HG02486.hp1
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG04228.hp2
 intron_variant MODIFIER c.1011+59_1011+64dup
others(6): Show 
c.1011+59_1011+64dupTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 C
C
 CGTGTGTG
others(3): Show 
CGTGTGTGTGT
 9 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(6): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
 9 HG01081.hp2
HG01243.hp1
HG02723.hp1
others(6): Show 
HG01081.hp2
HG01243.hp1
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+55_1011+64dup
others(10): Show 
c.1011+55_1011+64dupTGTGTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 C
C
 CGTGTGTG
others(5): Show 
CGTGTGTGTGTGT
 5 a0001c0001t0058g0255
a0003c0004t0020g0276
a0003c0004t0021g0331
others(2): Show 
a0001c0001t0058g0255
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
 5 HG01433.hp1
HG02257.hp1
HG03540.hp2
others(2): Show 
HG01433.hp1
HG02257.hp1
HG03540.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.1011+53_1011+64dup
others(12): Show 
c.1011+53_1011+64dupTGTGTGTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 C
C
 CGTGTGTG
others(7): Show 
CGTGTGTGTGTGTGT
 11 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0098g0257
others(8): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0098g0257
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0031g0261
a0003c0004t0131g0264
a0009c0008t0021g0267
 11 HG00673.hp2
HG02055.hp1
HG02109.hp2
others(8): Show 
HG00673.hp2
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02630.hp2
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+51_1011+64dup
others(14): Show 
c.1011+51_1011+64dupTGTGTGTGTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 CGT
CGT
 C
C
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0081g0108
a0001c0001t0090g0012
a0001c0001t0093g0237
a0001c0001t0099g0021
a0001c0001t0116g0287
 36 HG00673.hp1
HG00735.hp2
HG02027.hp2
others(33): Show 
HG00673.hp1
HG00735.hp2
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19030.hp1
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1011+63_1011+64del
others(2): Show 
c.1011+63_1011+64delTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 CGTGT
CGTGT
 C
C
 12 a0001c0001t0009g0017
a0001c0001t0063g0040
a0001c0001t0115g0028
others(9): Show 
a0001c0001t0009g0017
a0001c0001t0063g0040
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0005g0088
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0096
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0113g0087
 12 HG00738.hp1
HG01106.hp2
HG02145.hp2
others(9): Show 
HG00738.hp1
HG01106.hp2
HG02145.hp2
HG02148.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG03130.hp1
HG03490.hp2
HG03688.hp1
NA20905.hp2
 intron_variant MODIFIER c.1011+61_1011+64del
others(4): Show 
c.1011+61_1011+64delTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 CGTGTGT
CGTGTGT
 C
C
 69 a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
others(66): Show 
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0089
a0001c0002t0005g0095
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 71 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(68): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03491.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp2
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA21309.hp2
 intron_variant MODIFIER c.1011+59_1011+64del
others(6): Show 
c.1011+59_1011+64delTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55047185 CGTGTGTG
others(1): Show 
CGTGTGTGT
 C
C
 6 a0001c0001t0010g0314
a0001c0001t0114g0026
a0001c0002t0002g0036
others(3): Show 
a0001c0001t0010g0314
a0001c0001t0114g0026
a0001c0002t0002g0036
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 6 HG02300.hp1
HG02559.hp1
HG02615.hp1
others(3): Show 
HG02300.hp1
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG02922.hp2
NA19081.hp1
 intron_variant MODIFIER c.1011+57_1011+64del
others(8): Show 
c.1011+57_1011+64delTGTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55047185
chr17:55048128 A
A
 T
T
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.1011+974A>T
c.1011+974A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55048128
chr17:55048208 C
C
 T
T
 1 a0005c0015t0011g0023
a0005c0015t0011g0023
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.1011+1054C>T
c.1011+1054C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55048208
chr17:55048294 C
C
 T
T
 10 a0001c0001t0001g0169
a0001c0001t0001g0183
a0001c0001t0001g0206
others(7): Show 
a0001c0001t0001g0169
a0001c0001t0001g0183
a0001c0001t0001g0206
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0007g0213
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
a0001c0001t0120g0184
 10 HG00738.hp2
HG01070.hp2
HG01261.hp2
others(7): Show 
HG00738.hp2
HG01070.hp2
HG01261.hp2
HG02056.hp1
NA18940.hp2
NA18991.hp1
NA19009.hp2
NA19060.hp1
NA19064.hp2
NA20300.hp1
 intron_variant MODIFIER c.1011+1140C>T
c.1011+1140C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55048294
chr17:55048296 C
C
 G
G
 2 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0034g0254
a0001c0001t0034g0256
 2 HG00673.hp2
NA18963.hp2
HG00673.hp2
NA18963.hp2
 intron_variant MODIFIER c.1011+1142C>G
c.1011+1142C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55048296
chr17:55048326 A
A
 G
G
 1 a0002c0003t0003g0286
a0002c0003t0003g0286
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1011+1172A>G
c.1011+1172A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55048326
chr17:55048589 C
C
 T
T
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1011+1435C>T
c.1011+1435C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55048589
chr17:55048624 C
C
 CA
CA
 76 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(73): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 77 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(74): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1011+1477dupA
c.1011+1477dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55048624
chr17:55048625 A
A
 C
C
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.1011+1471A>C
c.1011+1471A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55048625
chr17:55048907 T
T
 C
C
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1011+1753T>C
c.1011+1753T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55048907
chr17:55049014 A
A
 G
G
 1 a0002c0003t0006g0144
a0002c0003t0006g0144
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1011+1860A>G
c.1011+1860A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049014
chr17:55049090 T
T
 G
G
 5 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
others(2): Show 
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 intron_variant MODIFIER c.1011+1936T>G
c.1011+1936T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049090
chr17:55049448 A
A
 G
G
 1 a0001c0001t0003g0305
a0001c0001t0003g0305
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1011+2294A>G
c.1011+2294A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049448
chr17:55049491 G
G
 A
A
 105 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(102): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 106 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(103): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+2337G>A
c.1011+2337G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049491
chr17:55049525 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1011+2371A>G
c.1011+2371A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049525
chr17:55049528 A
A
 C
C
 2 a0001c0001t0103g0157
a0001c0001t0117g0158
a0001c0001t0103g0157
a0001c0001t0117g0158
 2 HG02040.hp2
HG02083.hp2
HG02040.hp2
HG02083.hp2
 intron_variant MODIFIER c.1011+2374A>C
c.1011+2374A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049528
chr17:55049545 G
G
 C
C
 8 a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
others(5): Show 
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0104g0077
a0001c0002t0126g0072
 8 HG00099.hp1
HG00280.hp1
HG00642.hp2
others(5): Show 
HG00099.hp1
HG00280.hp1
HG00642.hp2
HG00735.hp1
HG01074.hp1
HG01123.hp1
HG01169.hp1
HG01517.hp1
 intron_variant MODIFIER c.1011+2391G>C
c.1011+2391G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049545
chr17:55049886 G
G
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+2732G>C
c.1011+2732G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049886
chr17:55049894 C
C
 G
G
 156 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(153): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 159 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(156): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+2740C>G
c.1011+2740C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049894
chr17:55049919 A
A
 T
T
 9 a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0064
others(6): Show 
a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0069
a0001c0002t0024g0071
 10 NA18945.hp2
NA18964.hp2
NA18969.hp2
others(7): Show 
NA18945.hp2
NA18964.hp2
NA18969.hp2
NA18982.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19060.hp2
NA19063.hp2
 intron_variant MODIFIER c.1011+2765A>T
c.1011+2765A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049919
chr17:55049957 T
T
 A
A
 13 a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
others(10): Show 
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0309
a0001c0001t0003g0318
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0017g0288
a0001c0001t0024g0307
 13 HG00423.hp2
NA18939.hp1
NA18940.hp1
others(10): Show 
HG00423.hp2
NA18939.hp1
NA18940.hp1
NA18953.hp2
NA18977.hp2
NA18993.hp1
NA19005.hp1
NA19007.hp2
NA19056.hp1
NA19062.hp1
NA19065.hp2
NA19080.hp1
NA19085.hp1
 intron_variant MODIFIER c.1011+2803T>A
c.1011+2803T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049957
chr17:55049974 A
A
 T
T
 1 a0001c0001t0067g0337
a0001c0001t0067g0337
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.1011+2820A>T
c.1011+2820A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55049974
chr17:55050142 A
A
 G
G
 5 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
others(2): Show 
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 intron_variant MODIFIER c.1011+2988A>G
c.1011+2988A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55050142
chr17:55050297 A
A
 G
G
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1011+3143A>G
c.1011+3143A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55050297
chr17:55050350 C
C
 T
T
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1011+3196C>T
c.1011+3196C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55050350
chr17:55050493 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+3339C>T
c.1011+3339C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55050493
chr17:55050563 C
C
 T
T
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+3409C>T
c.1011+3409C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55050563
chr17:55050933 G
G
 T
T
 1 a0001c0002t0002g0054
a0001c0002t0002g0054
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.1011+3779G>T
c.1011+3779G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55050933
chr17:55050936 G
G
 A
A
 2 a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0230
a0001c0001t0012g0231
 2 HG02976.hp2
HG03471.hp2
HG02976.hp2
HG03471.hp2
 intron_variant MODIFIER c.1011+3782G>A
c.1011+3782G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55050936
chr17:55051244 A
A
 G
G
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+4090A>G
c.1011+4090A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051244
chr17:55051515 T
T
 G
G
 1 a0001c0001t0009g0110
a0001c0001t0009g0110
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1011+4361T>G
c.1011+4361T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051515
chr17:55051527 A
A
 G
G
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1011+4373A>G
c.1011+4373A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051527
chr17:55051549 A
A
 G
G
 21 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(18): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 21 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(18): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+4395A>G
c.1011+4395A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051549
chr17:55051693 A
A
 T
T
 5 a0001c0001t0003g0274
a0001c0001t0010g0320
a0001c0001t0041g0293
others(2): Show 
a0001c0001t0003g0274
a0001c0001t0010g0320
a0001c0001t0041g0293
a0001c0001t0044g0319
a0001c0001t0046g0281
 5 HG02602.hp1
HG02738.hp1
HG03669.hp1
others(2): Show 
HG02602.hp1
HG02738.hp1
HG03669.hp1
HG04115.hp2
HG04199.hp2
 intron_variant MODIFIER c.1011+4539A>T
c.1011+4539A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051693
chr17:55051788 C
C
 T
T
 1 a0001c0001t0009g0111
a0001c0001t0009g0111
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1011+4634C>T
c.1011+4634C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051788
chr17:55051826 T
T
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1011+4672T>A
c.1011+4672T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051826
chr17:55051835 T
T
 TTA
TTA
 3 a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0101g0005
 3 NA18991.hp1
NA19009.hp2
NA19060.hp1
NA18991.hp1
NA19009.hp2
NA19060.hp1
 intron_variant MODIFIER c.1011+4689_1011+469
others(6): Show 
c.1011+4689_1011+4690dupAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55051835
chr17:55051888 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1011+4734G>A
c.1011+4734G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051888
chr17:55051895 T
T
 C
C
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1011+4741T>C
c.1011+4741T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55051895
chr17:55052047 T
T
 C
C
 142 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(139): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0006c0013t0001g0182
 143 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(140): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+4893T>C
c.1011+4893T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052047
chr17:55052132 C
C
 A
A
 1 a0001c0001t0001g0170
a0001c0001t0001g0170
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1011+4978C>A
c.1011+4978C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052132
chr17:55052393 C
C
 T
T
 1 a0001c0001t0095g0329
a0001c0001t0095g0329
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1011+5239C>T
c.1011+5239C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052393
chr17:55052644 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+5490G>A
c.1011+5490G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052644
chr17:55052698 A
A
 G
G
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.1011+5544A>G
c.1011+5544A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052698
chr17:55052788 A
A
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1011+5634A>G
c.1011+5634A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052788
chr17:55052815 C
C
 T
T
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.1011+5661C>T
c.1011+5661C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052815
chr17:55052885 T
T
 TA
TA
 30 a0001c0001t0001g0164
a0001c0001t0001g0243
a0001c0001t0004g0236
others(27): Show 
a0001c0001t0001g0164
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0007g0151
a0001c0001t0007g0195
a0001c0001t0012g0228
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0036g0153
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0093g0237
a0001c0001t0120g0184
a0001c0001t0134g0233
a0002c0003t0011g0131
 30 HG00558.hp1
HG00673.hp1
HG01070.hp2
others(27): Show 
HG00558.hp1
HG00673.hp1
HG01070.hp2
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG04204.hp2
NA18951.hp1
NA18953.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19080.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1011+5750dupA
c.1011+5750dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052885
chr17:55052885 T
T
 TAA
TAA
 86 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(83): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0154
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0011t0001g0156
a0006c0013t0001g0182
 87 HG00423.hp1
HG00438.hp1
HG00639.hp2
others(84): Show 
HG00423.hp1
HG00438.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02738.hp2
HG02809.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18963.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+5749_1011+575
others(6): Show 
c.1011+5749_1011+5750dupAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052885
chr17:55052885 TA
TA
 T
T
 92 a0001c0001t0017g0368
a0001c0001t0019g0014
a0001c0001t0024g0307
others(89): Show 
a0001c0001t0017g0368
a0001c0001t0019g0014
a0001c0001t0024g0307
a0001c0001t0033g0357
a0001c0001t0044g0319
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0002c0003t0016g0147
a0002c0003t0089g0143
a0003c0004t0077g0363
 94 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(91): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03688.hp1
HG03704.hp2
HG04115.hp1
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19062.hp1
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.1011+5750delA
c.1011+5750delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052885
chr17:55052916 C
C
 CGT
CGT
 87 a0001c0001t0001g0203
a0001c0001t0001g0216
a0001c0001t0002g0344
others(84): Show 
a0001c0001t0001g0203
a0001c0001t0001g0216
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0359
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0033g0357
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0067g0337
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0081g0108
a0001c0001t0122g0150
a0001c0001t0134g0233
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0011g0118
a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0002c0003t0088g0125
 89 HG00280.hp2
HG00423.hp2
HG00438.hp1
others(86): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1011+5796_1011+579
others(6): Show 
c.1011+5796_1011+5797dupTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052916
chr17:55052916 C
C
 CGTGT
CGTGT
 23 a0001c0001t0001g0165
a0001c0001t0003g0283
a0001c0001t0003g0304
others(20): Show 
a0001c0001t0001g0165
a0001c0001t0003g0283
a0001c0001t0003g0304
a0001c0001t0003g0328
a0001c0001t0008g0349
a0001c0001t0008g0354
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0033g0356
a0001c0001t0040g0335
a0001c0001t0052g0315
a0001c0001t0057g0317
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0074g0011
a0001c0001t0087g0117
a0001c0001t0099g0021
a0003c0006t0092g0113
a0007c0010t0003g0298
 23 HG01175.hp1
HG01943.hp2
HG01952.hp1
others(20): Show 
HG01175.hp1
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02148.hp1
HG02257.hp2
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG02970.hp2
HG03139.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp2
NA18940.hp1
NA19006.hp1
NA19030.hp1
NA19083.hp1
NA19090.hp1
NA19240.hp2
 intron_variant MODIFIER c.1011+5794_1011+579
others(8): Show 
c.1011+5794_1011+5797dupTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052916
chr17:55052916 CGT
CGT
 C
C
 13 a0001c0001t0007g0083
a0001c0001t0008g0338
a0001c0002t0002g0030
others(10): Show 
a0001c0001t0007g0083
a0001c0001t0008g0338
a0001c0002t0002g0030
a0001c0002t0002g0036
a0001c0002t0002g0070
a0001c0002t0102g0056
a0001c0002t0128g0057
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0008c0014t0133g0008
 13 HG00621.hp2
HG01081.hp2
HG02027.hp1
others(10): Show 
HG00621.hp2
HG01081.hp2
HG02027.hp1
HG02165.hp1
HG02257.hp1
HG02723.hp1
HG02818.hp2
HG02896.hp1
HG03540.hp2
HG04184.hp2
HG04228.hp1
NA19081.hp1
NA19088.hp2
 intron_variant MODIFIER c.1011+5796_1011+579
others(6): Show 
c.1011+5796_1011+5797delTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052916
chr17:55052916 CGTGT
CGTGT
 C
C
 79 a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0197
others(76): Show 
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0005g0193
a0001c0001t0073g0259
a0001c0001t0097g0222
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
 81 HG00099.hp1
HG00280.hp1
HG00639.hp1
others(78): Show 
HG00099.hp1
HG00280.hp1
HG00639.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG01952.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19006.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1011+5794_1011+579
others(8): Show 
c.1011+5794_1011+5797delTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052916
chr17:55052916 CGTGTGT
CGTGTGT
 C
C
 19 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(16): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0002t0004g0085
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 19 HG00673.hp2
HG01243.hp1
HG01433.hp1
others(16): Show 
HG00673.hp2
HG01243.hp1
HG01433.hp1
HG02055.hp1
HG02109.hp2
HG02602.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA18963.hp2
NA18998.hp2
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+5792_1011+579
others(10): Show 
c.1011+5792_1011+5797delTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052916
chr17:55052916 CGTGTGTG
others(1): Show 
CGTGTGTGT
 C
C
 5 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
others(2): Show 
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0003c0004t0021g0331
a0009c0008t0021g0267
 5 HG02280.hp2
HG02630.hp1
HG02630.hp2
others(2): Show 
HG02280.hp2
HG02630.hp1
HG02630.hp2
HG02965.hp1
NA19043.hp2
 intron_variant MODIFIER c.1011+5790_1011+579
others(12): Show 
c.1011+5790_1011+5797delTGTGTGTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052916
chr17:55052948 T
T
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1011+5794T>G
c.1011+5794T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052948
chr17:55052950 T
T
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1011+5796T>G
c.1011+5796T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052950
chr17:55052952 G
G
 T
T
 7 a0001c0001t0063g0040
a0001c0001t0069g0272
a0001c0001t0071g0109
others(4): Show 
a0001c0001t0063g0040
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
 7 HG02559.hp2
HG02647.hp1
HG02965.hp2
others(4): Show 
HG02559.hp2
HG02647.hp1
HG02965.hp2
HG03098.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.1011+5798G>T
c.1011+5798G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55052952
chr17:55052987 T
T
 TA
TA
 79 a0001c0001t0008g0338
a0001c0001t0023g0343
a0001c0001t0033g0357
others(76): Show 
a0001c0001t0008g0338
a0001c0001t0023g0343
a0001c0001t0033g0357
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 81 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(78): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1011+5845dupA
c.1011+5845dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052987
chr17:55052987 T
T
 TAA
TAA
 102 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(99): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 103 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(100): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+5844_1011+584
others(6): Show 
c.1011+5844_1011+5845dupAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052987
chr17:55052987 TA
TA
 T
T
 118 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(115): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0006c0013t0001g0182
 119 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(116): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+5845delA
c.1011+5845delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55052987
chr17:55053366 T
T
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1011+6212T>C
c.1011+6212T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053366
chr17:55053410 A
A
 G
G
 1 a0003c0004t0028g0361
a0003c0004t0028g0361
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1011+6256A>G
c.1011+6256A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053410
chr17:55053432 G
G
 A
A
 1 a0001c0001t0064g0016
a0001c0001t0064g0016
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1011+6278G>A
c.1011+6278G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053432
chr17:55053707 T
T
 C
C
 1 a0001c0001t0017g0369
a0001c0001t0017g0369
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1011+6553T>C
c.1011+6553T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053707
chr17:55053726 A
A
 G
G
 1 a0001c0001t0003g0321
a0001c0001t0003g0321
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1011+6572A>G
c.1011+6572A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053726
chr17:55053776 A
A
 G
G
 1 a0001c0001t0003g0326
a0001c0001t0003g0326
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1011+6622A>G
c.1011+6622A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053776
chr17:55053862 C
C
 G
G
 15 a0001c0001t0115g0028
a0003c0004t0013g0260
a0003c0004t0013g0262
others(12): Show 
a0001c0001t0115g0028
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 15 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(12): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02145.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+6708C>G
c.1011+6708C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053862
chr17:55053920 A
A
 C
C
 1 a0001c0001t0004g0238
a0001c0001t0004g0238
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1011+6766A>C
c.1011+6766A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053920
chr17:55053931 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1011+6777A>G
c.1011+6777A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55053931
chr17:55054051 G
G
 A
A
 1 a0001c0001t0003g0328
a0001c0001t0003g0328
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.1011+6897G>A
c.1011+6897G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55054051
chr17:55054534 G
G
 C
C
 1 a0001c0001t0003g0289
a0001c0001t0003g0289
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1011+7380G>C
c.1011+7380G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55054534
chr17:55054608 T
T
 C
C
 4 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(1): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0081g0108
 4 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(1): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
NA20300.hp2
 intron_variant MODIFIER c.1011+7454T>C
c.1011+7454T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55054608
chr17:55054714 G
G
 A
A
 1 a0001c0002t0002g0044
a0001c0002t0002g0044
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1011+7560G>A
c.1011+7560G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55054714
chr17:55054756 A
A
 G
G
 1 a0001c0002t0005g0091
a0001c0002t0005g0091
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1011+7602A>G
c.1011+7602A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55054756
chr17:55054892 C
C
 T
T
 2 a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0027g0244
a0001c0001t0027g0249
 2 NA18953.hp1
NA18978.hp2
NA18953.hp1
NA18978.hp2
 intron_variant MODIFIER c.1011+7738C>T
c.1011+7738C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55054892
chr17:55055029 A
A
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1011+7875A>C
c.1011+7875A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55055029
chr17:55055050 G
G
 A
A
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1011+7896G>A
c.1011+7896G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55055050
chr17:55055494 C
C
 T
T
 1 a0005c0015t0011g0023
a0005c0015t0011g0023
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.1011+8340C>T
c.1011+8340C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55055494
chr17:55055495 G
G
 A
A
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1011+8341G>A
c.1011+8341G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55055495
chr17:55055547 A
A
 G
G
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+8393A>G
c.1011+8393A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55055547
chr17:55055801 C
C
 A
A
 80 a0001c0001t0114g0026
a0001c0001t0123g0029
a0001c0001t0130g0027
others(77): Show 
a0001c0001t0114g0026
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 82 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(79): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1011+8647C>A
c.1011+8647C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55055801
chr17:55055810 G
G
 A
A
 25 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0115g0028
others(22): Show 
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0115g0028
a0001c0001t0132g0268
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 25 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(22): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+8656G>A
c.1011+8656G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55055810
chr17:55055841 C
C
 G
G
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1011+8687C>G
c.1011+8687C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55055841
chr17:55055850 T
T
 TA
TA
 3 a0001c0001t0001g0160
a0001c0001t0001g0210
a0001c0001t0007g0196
a0001c0001t0001g0160
a0001c0001t0001g0210
a0001c0001t0007g0196
 3 HG01081.hp1
HG01255.hp2
HG02809.hp1
HG01081.hp1
HG01255.hp2
HG02809.hp1
 intron_variant MODIFIER c.1011+8699dupA
c.1011+8699dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55055850
chr17:55056216 A
A
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1011+9062A>G
c.1011+9062A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55056216
chr17:55056365 A
A
 G
G
 7 a0001c0001t0115g0028
a0003c0004t0015g0278
a0003c0004t0015g0279
others(4): Show 
a0001c0001t0115g0028
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 7 HG01243.hp1
HG02145.hp2
HG02896.hp2
others(4): Show 
HG01243.hp1
HG02145.hp2
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+9211A>G
c.1011+9211A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55056365
chr17:55056424 G
G
 T
T
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1011+9270G>T
c.1011+9270G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55056424
chr17:55056513 A
A
 AAG
AAG
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1011+9359_1011+936
others(6): Show 
c.1011+9359_1011+9360insAG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55056513
chr17:55056617 A
A
 G
G
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.1011+9463A>G
c.1011+9463A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55056617
chr17:55056787 G
G
 A
A
 1 a0003c0004t0031g0261
a0003c0004t0031g0261
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1011+9633G>A
c.1011+9633G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55056787
chr17:55056979 A
A
 G
G
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.1011+9825A>G
c.1011+9825A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55056979
chr17:55057242 G
G
 C
C
 20 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(17): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0204
a0001c0001t0001g0220
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0212
a0001c0001t0007g0214
a0001c0001t0007g0348
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0124g0177
a0001c0001t0129g0161
a0001c0011t0001g0156
 21 HG00423.hp1
HG00558.hp1
HG00639.hp2
others(18): Show 
HG00423.hp1
HG00558.hp1
HG00639.hp2
HG01243.hp2
HG01934.hp1
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18975.hp1
NA18981.hp2
NA19057.hp2
NA19058.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19085.hp2
NA19091.hp1
 intron_variant MODIFIER c.1011+10088G>C
c.1011+10088G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057242
chr17:55057290 T
T
 G
G
 2 a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0068g0339
a0001c0001t0082g0334
 2 NA18941.hp1
NA19063.hp1
NA18941.hp1
NA19063.hp1
 intron_variant MODIFIER c.1011+10136T>G
c.1011+10136T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057290
chr17:55057348 A
A
 G
G
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.1011+10194A>G
c.1011+10194A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057348
chr17:55057468 T
T
 C
C
 1 a0001c0001t0029g0115
a0001c0001t0029g0115
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1011+10314T>C
c.1011+10314T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057468
chr17:55057606 G
G
 T
T
 1 a0001c0002t0002g0090
a0001c0002t0002g0090
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1011+10452G>T
c.1011+10452G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057606
chr17:55057694 C
C
 A
A
 1 a0001c0001t0012g0230
a0001c0001t0012g0230
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1011+10540C>A
c.1011+10540C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057694
chr17:55057836 G
G
 C
C
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.1011+10682G>C
c.1011+10682G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057836
chr17:55057910 T
T
 C
C
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1011+10756T>C
c.1011+10756T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057910
chr17:55057961 G
G
 A
A
 3 a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
 3 HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
 intron_variant MODIFIER c.1011+10807G>A
c.1011+10807G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55057961
chr17:55058002 C
C
 A
A
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1011+10848C>A
c.1011+10848C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058002
chr17:55058013 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+10859G>A
c.1011+10859G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058013
chr17:55058143 A
A
 G
G
 1 a0001c0001t0003g0316
a0001c0001t0003g0316
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1011+10989A>G
c.1011+10989A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058143
chr17:55058175 C
C
 T
T
 105 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(102): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 106 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(103): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1011+11021C>T
c.1011+11021C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058175
chr17:55058176 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+11022G>A
c.1011+11022G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058176
chr17:55058233 C
C
 A
A
 7 a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0018g0223
others(4): Show 
a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0091g0225
a0001c0001t0097g0222
 7 HG01109.hp1
HG03516.hp2
NA18951.hp2
others(4): Show 
HG01109.hp1
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19058.hp2
 intron_variant MODIFIER c.1011+11079C>A
c.1011+11079C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058233
chr17:55058294 C
C
 T
T
 1 a0001c0001t0004g0285
a0001c0001t0004g0285
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.1011+11140C>T
c.1011+11140C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058294
chr17:55058324 T
T
 C
C
 1 a0001c0002t0002g0049
a0001c0002t0002g0049
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1011+11170T>C
c.1011+11170T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058324
chr17:55058409 A
A
 C
C
 1 a0001c0001t0034g0254
a0001c0001t0034g0254
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1011+11255A>C
c.1011+11255A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058409
chr17:55058881 A
A
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1011+11727A>T
c.1011+11727A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058881
chr17:55058914 A
A
 T
T
 1 a0001c0001t0004g0284
a0001c0001t0004g0284
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1011+11760A>T
c.1011+11760A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55058914
chr17:55059018 A
A
 G
G
 1 a0001c0001t0003g0289
a0001c0001t0003g0289
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1011+11864A>G
c.1011+11864A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55059018
chr17:55059815 G
G
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1011+12661G>T
c.1011+12661G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55059815
chr17:55059889 G
G
 A
A
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1011+12735G>A
c.1011+12735G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55059889
chr17:55059899 G
G
 A
A
 3 a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
 3 HG02145.hp2
HG02717.hp2
HG03130.hp1
HG02145.hp2
HG02717.hp2
HG03130.hp1
 intron_variant MODIFIER c.1011+12745G>A
c.1011+12745G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55059899
chr17:55059942 G
G
 C
C
 1 a0001c0001t0019g0015
a0001c0001t0019g0015
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1011+12788G>C
c.1011+12788G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55059942
chr17:55059963 T
T
 C
C
 1 a0001c0001t0026g0313
a0001c0001t0026g0313
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1011+12809T>C
c.1011+12809T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55059963
chr17:55060066 A
A
 G
G
 1 a0001c0002t0109g0060
a0001c0002t0109g0060
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.1012-12834A>G
c.1012-12834A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55060066
chr17:55060127 T
T
 A
A
 1 a0001c0002t0002g0030
a0001c0002t0002g0030
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.1012-12773T>A
c.1012-12773T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55060127
chr17:55060145 A
A
 G
G
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-12755A>G
c.1012-12755A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55060145
chr17:55060385 G
G
 A
A
 3 a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
 3 HG02145.hp2
HG02717.hp2
HG03130.hp1
HG02145.hp2
HG02717.hp2
HG03130.hp1
 intron_variant MODIFIER c.1012-12515G>A
c.1012-12515G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55060385
chr17:55060613 A
A
 G
G
 336 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(333): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 340 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(337): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-12287A>G
c.1012-12287A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55060613
chr17:55060637 C
C
 G
G
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-12263C>G
c.1012-12263C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55060637
chr17:55060928 C
C
 T
T
 1 a0001c0002t0002g0043
a0001c0002t0002g0043
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1012-11972C>T
c.1012-11972C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55060928
chr17:55061050 A
A
 G
G
 1 a0001c0001t0005g0193
a0001c0001t0005g0193
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.1012-11850A>G
c.1012-11850A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55061050
chr17:55061247 G
G
 A
A
 114 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(111): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0006c0013t0001g0182
 115 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(112): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-11653G>A
c.1012-11653G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55061247
chr17:55061274 G
G
 A
A
 2 a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0303
a0001c0001t0003g0304
 2 NA18939.hp1
NA18940.hp1
NA18939.hp1
NA18940.hp1
 intron_variant MODIFIER c.1012-11626G>A
c.1012-11626G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55061274
chr17:55061357 T
T
 C
C
 1 a0001c0001t0134g0233
a0001c0001t0134g0233
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1012-11543T>C
c.1012-11543T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55061357
chr17:55061505 G
G
 T
T
 5 a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
others(2): Show 
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
 5 NA18946.hp2
NA18947.hp1
NA18979.hp1
others(2): Show 
NA18946.hp2
NA18947.hp1
NA18979.hp1
NA18984.hp2
NA19062.hp2
 intron_variant MODIFIER c.1012-11395G>T
c.1012-11395G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55061505
chr17:55061771 T
T
 C
C
 2 a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0080
a0001c0001t0001g0082
 2 HG01258.hp1
HG01496.hp1
HG01258.hp1
HG01496.hp1
 intron_variant MODIFIER c.1012-11129T>C
c.1012-11129T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55061771
chr17:55061787 C
C
 T
T
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1012-11113C>T
c.1012-11113C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55061787
chr17:55061920 G
G
 T
T
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-10980G>T
c.1012-10980G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55061920
chr17:55062046 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-10854G>A
c.1012-10854G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55062046
chr17:55062109 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-10791T>C
c.1012-10791T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55062109
chr17:55062215 T
T
 G
G
 1 a0001c0002t0005g0104
a0001c0002t0005g0104
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.1012-10685T>G
c.1012-10685T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55062215
chr17:55062297 T
T
 G
G
 1 a0001c0001t0004g0285
a0001c0001t0004g0285
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.1012-10603T>G
c.1012-10603T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55062297
chr17:55062465 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1012-10435C>T
c.1012-10435C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55062465
chr17:55062777 T
T
 C
C
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1012-10123T>C
c.1012-10123T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55062777
chr17:55062799 C
C
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-10101C>A
c.1012-10101C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55062799
chr17:55063033 G
G
 T
T
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1012-9867G>T
c.1012-9867G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55063033
chr17:55063066 A
A
 C
C
 314 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(311): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0111
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 318 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(315): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-9834A>C
c.1012-9834A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55063066
chr17:55063135 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1012-9765A>G
c.1012-9765A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55063135
chr17:55063146 C
C
 T
T
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1012-9754C>T
c.1012-9754C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55063146
chr17:55063330 T
T
 C
C
 23 a0001c0001t0031g0269
a0001c0001t0132g0268
a0003c0004t0013g0260
others(20): Show 
a0001c0001t0031g0269
a0001c0001t0132g0268
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 23 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(20): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1012-9570T>C
c.1012-9570T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55063330
chr17:55063377 C
C
 T
T
 1 a0002c0003t0003g0286
a0002c0003t0003g0286
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1012-9523C>T
c.1012-9523C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55063377
chr17:55063640 C
C
 T
T
 114 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(111): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0006c0013t0001g0182
 115 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(112): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-9260C>T
c.1012-9260C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55063640
chr17:55063748 C
C
 T
T
 24 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
others(21): Show 
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 24 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(21): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1012-9152C>T
c.1012-9152C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55063748
chr17:55064434 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-8466C>T
c.1012-8466C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55064434
chr17:55064498 TTC
TTC
 T
T
 3 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
 3 HG02280.hp2
HG02630.hp1
HG02965.hp1
HG02280.hp2
HG02630.hp1
HG02965.hp1
 intron_variant MODIFIER c.1012-8400_1012-839
others(6): Show 
c.1012-8400_1012-8399delCT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55064498
chr17:55064533 C
C
 T
T
 1 a0001c0009t0003g0297
a0001c0009t0003g0297
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1012-8367C>T
c.1012-8367C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55064533
chr17:55064534 G
G
 A
A
 1 a0001c0001t0007g0217
a0001c0001t0007g0217
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1012-8366G>A
c.1012-8366G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55064534
chr17:55064549 C
C
 G
G
 1 a0001c0001t0040g0345
a0001c0001t0040g0345
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1012-8351C>G
c.1012-8351C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55064549
chr17:55064757 G
G
 A
A
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1012-8143G>A
c.1012-8143G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55064757
chr17:55064842 A
A
 G
G
 1 a0003c0004t0013g0266
a0003c0004t0013g0266
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1012-8058A>G
c.1012-8058A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55064842
chr17:55064897 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-8003T>C
c.1012-8003T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55064897
chr17:55064978 G
G
 A
A
 1 a0001c0001t0008g0338
a0001c0001t0008g0338
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1012-7922G>A
c.1012-7922G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55064978
chr17:55065079 T
T
 C
C
 1 a0001c0002t0104g0077
a0001c0002t0104g0077
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.1012-7821T>C
c.1012-7821T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55065079
chr17:55065345 G
G
 A
A
 1 a0001c0002t0002g0068
a0001c0002t0002g0068
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.1012-7555G>A
c.1012-7555G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55065345
chr17:55065478 T
T
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-7422T>A
c.1012-7422T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55065478
chr17:55065621 C
C
 CT
CT
 6 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0057g0317
others(3): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 6 HG00673.hp2
HG01433.hp1
HG02148.hp1
others(3): Show 
HG00673.hp2
HG01433.hp1
HG02148.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-7268dupT
c.1012-7268dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55065621
chr17:55065767 C
C
 T
T
 2 a0002c0003t0011g0142
a0002c0003t0086g0146
a0002c0003t0011g0142
a0002c0003t0086g0146
 2 HG01106.hp1
HG01175.hp2
HG01106.hp1
HG01175.hp2
 intron_variant MODIFIER c.1012-7133C>T
c.1012-7133C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55065767
chr17:55065845 A
A
 G
G
 74 a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
others(71): Show 
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 76 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1012-7055A>G
c.1012-7055A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55065845
chr17:55065944 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1012-6956C>T
c.1012-6956C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55065944
chr17:55066017 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1012-6883A>G
c.1012-6883A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55066017
chr17:55066195 G
G
 GTTGTT
GTTGTT
 33 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
others(30): Show 
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0095g0329
a0001c0002t0002g0034
a0001c0002t0002g0090
a0002c0003t0006g0119
a0002c0003t0011g0118
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 33 HG01261.hp2
HG01346.hp2
HG01943.hp1
others(30): Show 
HG01261.hp2
HG01346.hp2
HG01943.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18977.hp1
NA19030.hp1
NA19080.hp2
NA19082.hp2
 intron_variant MODIFIER c.1012-6663_1012-665
others(9): Show 
c.1012-6663_1012-6659dupTGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55066195
chr17:55066195 G
G
 GTTGTTTT
others(3): Show 
GTTGTTTTGTT
 3 a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0134g0233
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0134g0233
 3 HG02622.hp2
HG02647.hp1
NA19240.hp2
HG02622.hp2
HG02647.hp1
NA19240.hp2
 intron_variant MODIFIER c.1012-6668_1012-665
others(14): Show 
c.1012-6668_1012-6659dupTGTTTTGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55066195
chr17:55066195 GTTGTT
GTTGTT
 G
G
 108 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(105): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0119g0148
a0001c0001t0122g0150
a0001c0002t0108g0097
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0006c0013t0001g0182
a0007c0010t0003g0298
 109 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(106): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00673.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18963.hp2
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA18998.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1012-6663_1012-665
others(9): Show 
c.1012-6663_1012-6659delTGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55066195
chr17:55066195 GTTGTTTT
others(3): Show 
GTTGTTTTGTT
 G
G
 1 a0001c0002t0038g0079
a0001c0002t0038g0079
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1012-6668_1012-665
others(14): Show 
c.1012-6668_1012-6659delTGTTTTGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55066195
chr17:55066396 G
G
 A
A
 82 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(79): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0011t0001g0156
a0006c0013t0001g0182
 83 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(80): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02738.hp2
HG02809.hp1
HG03490.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-6504G>A
c.1012-6504G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55066396
chr17:55066686 TA
TA
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-6208delA
c.1012-6208delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55066686
chr17:55066758 C
C
 T
T
 2 a0001c0002t0001g0106
a0001c0002t0002g0107
a0001c0002t0001g0106
a0001c0002t0002g0107
 2 NA18955.hp2
NA19054.hp2
NA18955.hp2
NA19054.hp2
 intron_variant MODIFIER c.1012-6142C>T
c.1012-6142C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55066758
chr17:55066763 A
A
 G
G
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.1012-6137A>G
c.1012-6137A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55066763
chr17:55066768 C
C
 A
A
 2 a0001c0002t0002g0043
a0001c0002t0002g0055
a0001c0002t0002g0043
a0001c0002t0002g0055
 2 NA18941.hp2
NA19068.hp2
NA18941.hp2
NA19068.hp2
 intron_variant MODIFIER c.1012-6132C>A
c.1012-6132C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55066768
chr17:55066826 C
C
 T
T
 74 a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
others(71): Show 
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 76 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1012-6074C>T
c.1012-6074C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55066826
chr17:55067111 T
T
 G
G
 1 a0001c0001t0060g0242
a0001c0001t0060g0242
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.1012-5789T>G
c.1012-5789T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55067111
chr17:55067194 C
C
 T
T
 1 a0003c0004t0015g0279
a0003c0004t0015g0279
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1012-5706C>T
c.1012-5706C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55067194
chr17:55067255 T
T
 A
A
 4 a0001c0001t0008g0333
a0001c0001t0008g0347
a0001c0001t0023g0343
others(1): Show 
a0001c0001t0008g0333
a0001c0001t0008g0347
a0001c0001t0023g0343
a0001c0001t0048g0346
 4 NA18946.hp1
NA19068.hp1
NA19070.hp1
others(1): Show 
NA18946.hp1
NA19068.hp1
NA19070.hp1
NA19075.hp2
 intron_variant MODIFIER c.1012-5645T>A
c.1012-5645T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55067255
chr17:55067293 C
C
 T
T
 21 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(18): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
 21 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(18): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1012-5607C>T
c.1012-5607C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55067293
chr17:55067483 C
C
 G
G
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1012-5417C>G
c.1012-5417C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55067483
chr17:55067506 T
T
 A
A
 1 a0001c0001t0009g0017
a0001c0001t0009g0017
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1012-5394T>A
c.1012-5394T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55067506
chr17:55067523 CAT
CAT
 C
C
 7 a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
others(4): Show 
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0009c0008t0021g0267
 7 HG01081.hp2
HG02257.hp1
HG02630.hp2
others(4): Show 
HG01081.hp2
HG02257.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG03540.hp2
NA19043.hp2
 intron_variant MODIFIER c.1012-5376_1012-537
others(6): Show 
c.1012-5376_1012-5375delAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55067523
chr17:55067874 A
A
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1012-5026A>G
c.1012-5026A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55067874
chr17:55068095 A
A
 G
G
 5 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(2): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0061g0239
a0001c0001t0093g0237
 5 NA18961.hp2
NA19064.hp1
NA19065.hp1
others(2): Show 
NA18961.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
 intron_variant MODIFIER c.1012-4805A>G
c.1012-4805A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55068095
chr17:55068243 G
G
 A
A
 81 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(78): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1012-4657G>A
c.1012-4657G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55068243
chr17:55068256 T
T
 G
G
 1 a0001c0001t0003g0274
a0001c0001t0003g0274
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1012-4644T>G
c.1012-4644T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55068256
chr17:55068441 T
T
 C
C
 1 a0001c0002t0005g0104
a0001c0002t0005g0104
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.1012-4459T>C
c.1012-4459T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55068441
chr17:55068618 G
G
 T
T
 2 a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0068g0339
a0001c0001t0082g0334
 2 NA18941.hp1
NA19063.hp1
NA18941.hp1
NA19063.hp1
 intron_variant MODIFIER c.1012-4282G>T
c.1012-4282G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55068618
chr17:55068769 T
T
 A
A
 1 a0001c0001t0064g0016
a0001c0001t0064g0016
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1012-4131T>A
c.1012-4131T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55068769
chr17:55069087 C
C
 T
T
 2 a0001c0002t0002g0090
a0001c0002t0105g0092
a0001c0002t0002g0090
a0001c0002t0105g0092
 2 HG03491.hp1
HG04204.hp1
HG03491.hp1
HG04204.hp1
 intron_variant MODIFIER c.1012-3813C>T
c.1012-3813C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069087
chr17:55069088 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-3812G>A
c.1012-3812G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069088
chr17:55069089 T
T
 C
C
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.1012-3811T>C
c.1012-3811T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069089
chr17:55069153 C
C
 CA
CA
 26 a0001c0001t0001g0218
a0001c0001t0003g0328
a0001c0001t0012g0228
others(23): Show 
a0001c0001t0001g0218
a0001c0001t0003g0328
a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0073g0259
a0001c0001t0081g0108
a0001c0002t0002g0039
a0001c0002t0038g0079
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
a0004c0007t0020g0009
a0004c0007t0020g0010
 26 HG01074.hp1
HG01243.hp1
HG02055.hp1
others(23): Show 
HG01074.hp1
HG01243.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03540.hp1
HG04115.hp1
HG04228.hp2
NA18522.hp1
NA19043.hp1
NA19090.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1012-3728dupA
c.1012-3728dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55069153
chr17:55069153 CA
CA
 C
C
 21 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
others(18): Show 
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0183
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0213
a0001c0001t0008g0333
a0001c0001t0017g0368
a0001c0001t0091g0225
a0001c0001t0099g0021
a0001c0002t0002g0043
a0001c0002t0002g0055
a0001c0002t0104g0077
a0001c0002t0110g0033
a0008c0014t0133g0008
 21 HG00738.hp2
HG01169.hp1
HG01261.hp2
others(18): Show 
HG00738.hp2
HG01169.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01943.hp1
HG02056.hp1
HG02735.hp2
HG02818.hp2
HG03471.hp1
NA18940.hp2
NA18941.hp2
NA18946.hp1
NA18962.hp1
NA18963.hp1
NA18977.hp1
NA19064.hp2
NA19068.hp2
NA19080.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-3728delA
c.1012-3728delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55069153
chr17:55069257 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-3643A>G
c.1012-3643A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069257
chr17:55069420 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-3480C>T
c.1012-3480C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069420
chr17:55069449 C
C
 T
T
 3 a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 3 HG02257.hp2
NA18522.hp2
NA19030.hp1
HG02257.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1012-3451C>T
c.1012-3451C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069449
chr17:55069450 A
A
 G
G
 16 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(13): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0081g0108
a0001c0001t0090g0012
 16 HG02257.hp2
HG02647.hp1
HG02717.hp1
others(13): Show 
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1012-3450A>G
c.1012-3450A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069450
chr17:55069641 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1012-3259A>G
c.1012-3259A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069641
chr17:55069905 C
C
 G
G
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1012-2995C>G
c.1012-2995C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069905
chr17:55069910 A
A
 G
G
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.1012-2990A>G
c.1012-2990A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55069910
chr17:55070031 A
A
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1012-2869A>G
c.1012-2869A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070031
chr17:55070337 T
T
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1012-2563T>G
c.1012-2563T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070337
chr17:55070355 T
T
 G
G
 165 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(162): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 168 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(165): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1012-2545T>G
c.1012-2545T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070355
chr17:55070364 G
G
 A
A
 83 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(80): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 85 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(82): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1012-2536G>A
c.1012-2536G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070364
chr17:55070468 A
A
 G
G
 3 a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
 3 NA18968.hp1
NA18983.hp2
NA18986.hp2
NA18968.hp1
NA18983.hp2
NA18986.hp2
 intron_variant MODIFIER c.1012-2432A>G
c.1012-2432A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070468
chr17:55070546 T
T
 C
C
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1012-2354T>C
c.1012-2354T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070546
chr17:55070702 C
C
 T
T
 1 a0002c0003t0006g0003
a0002c0003t0006g0003
 2 HG01168.hp2
HG01169.hp2
HG01168.hp2
HG01169.hp2
 intron_variant MODIFIER c.1012-2198C>T
c.1012-2198C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070702
chr17:55070736 C
C
 T
T
 1 a0001c0001t0008g0354
a0001c0001t0008g0354
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1012-2164C>T
c.1012-2164C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070736
chr17:55070775 G
G
 A
A
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1012-2125G>A
c.1012-2125G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070775
chr17:55070811 C
C
 T
T
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
 36 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(33): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1012-2089C>T
c.1012-2089C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55070811
chr17:55071168 A
A
 G
G
 1 a0001c0001t0040g0345
a0001c0001t0040g0345
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.1012-1732A>G
c.1012-1732A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55071168
chr17:55071264 C
C
 T
T
 1 a0001c0001t0095g0329
a0001c0001t0095g0329
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1012-1636C>T
c.1012-1636C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55071264
chr17:55071314 A
A
 G
G
 1 a0001c0001t0067g0337
a0001c0001t0067g0337
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.1012-1586A>G
c.1012-1586A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55071314
chr17:55071527 C
C
 T
T
 13 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(10): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 13 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(10): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1012-1373C>T
c.1012-1373C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55071527
chr17:55071741 G
G
 T
T
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1012-1159G>T
c.1012-1159G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55071741
chr17:55071788 A
A
 G
G
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1012-1112A>G
c.1012-1112A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55071788
chr17:55071871 T
T
 G
G
 7 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(4): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
 7 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(4): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.1012-1029T>G
c.1012-1029T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55071871
chr17:55071878 G
G
 A
A
 91 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(88): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0007c0010t0003g0298
a0009c0008t0021g0267
 92 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(89): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1012-1022G>A
c.1012-1022G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55071878
chr17:55071936 AGT
AGT
 A
A
 38 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(35): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
a0002c0003t0051g0136
a0002c0003t0054g0141
 38 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(35): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1012-962_1012-961d
others(4): Show 
c.1012-962_1012-961delTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 INFO_REALIGN_3_PRIME chr17 55071936
chr17:55072259 T
T
 A
A
 2 a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0303
a0001c0001t0003g0304
 2 NA18939.hp1
NA18940.hp1
NA18939.hp1
NA18940.hp1
 intron_variant MODIFIER c.1012-641T>A
c.1012-641T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55072259
chr17:55072330 A
A
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1012-570A>T
c.1012-570A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55072330
chr17:55072427 T
T
 C
C
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1012-473T>C
c.1012-473T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55072427
chr17:55072436 A
A
 G
G
 1 a0001c0002t0002g0066
a0001c0002t0002g0066
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.1012-464A>G
c.1012-464A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55072436
chr17:55072464 G
G
 A
A
 4 a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0119g0148
others(1): Show 
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0119g0148
a0001c0001t0122g0150
 4 NA18977.hp1
NA19011.hp1
NA19075.hp1
others(1): Show 
NA18977.hp1
NA19011.hp1
NA19075.hp1
NA19080.hp2
 intron_variant MODIFIER c.1012-436G>A
c.1012-436G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 12/17 chr17 55072464
chr17:55073108 A
A
 T
T
 1 a0001c0001t0056g0312
a0001c0001t0056g0312
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.1188+32A>T
c.1188+32A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073108
chr17:55073169 C
C
 G
G
 1 a0001c0002t0126g0072
a0001c0002t0126g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1188+93C>G
c.1188+93C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073169
chr17:55073467 G
G
 A
A
 1 a0001c0001t0036g0154
a0001c0001t0036g0154
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.1188+391G>A
c.1188+391G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073467
chr17:55073561 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1188+485G>A
c.1188+485G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073561
chr17:55073763 C
C
 T
T
 1 a0001c0001t0003g0321
a0001c0001t0003g0321
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1188+687C>T
c.1188+687C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073763
chr17:55073791 G
G
 T
T
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1188+715G>T
c.1188+715G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073791
chr17:55073854 C
C
 T
T
 3 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
 3 HG02280.hp2
HG02630.hp1
HG02965.hp1
HG02280.hp2
HG02630.hp1
HG02965.hp1
 intron_variant MODIFIER c.1188+778C>T
c.1188+778C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073854
chr17:55073881 G
G
 A
A
 1 a0001c0002t0002g0052
a0001c0002t0002g0052
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1188+805G>A
c.1188+805G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073881
chr17:55073929 A
A
 G
G
 160 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(157): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 163 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(160): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1188+853A>G
c.1188+853A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073929
chr17:55073973 A
A
 G
G
 1 a0002c0003t0004g0124
a0002c0003t0004g0124
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1188+897A>G
c.1188+897A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55073973
chr17:55074046 G
G
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1188+970G>A
c.1188+970G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074046
chr17:55074085 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1188+1009C>T
c.1188+1009C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074085
chr17:55074142 A
A
 C
C
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0073g0259
a0001c0001t0098g0257
 5 HG00673.hp2
HG01433.hp1
HG04228.hp2
others(2): Show 
HG00673.hp2
HG01433.hp1
HG04228.hp2
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1188+1066A>C
c.1188+1066A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074142
chr17:55074309 A
A
 G
G
 1 a0002c0003t0006g0135
a0002c0003t0006g0135
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.1188+1233A>G
c.1188+1233A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074309
chr17:55074331 C
C
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1188+1255C>A
c.1188+1255C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074331
chr17:55074381 G
G
 A
A
 12 a0001c0002t0001g0106
a0001c0002t0002g0030
a0001c0002t0002g0034
others(9): Show 
a0001c0002t0001g0106
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0036
a0001c0002t0002g0059
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0102g0056
a0001c0002t0125g0042
a0001c0002t0128g0057
 12 HG00621.hp2
HG02027.hp1
HG04228.hp1
others(9): Show 
HG00621.hp2
HG02027.hp1
HG04228.hp1
NA18939.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA19054.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19088.hp2
 intron_variant MODIFIER c.1188+1305G>A
c.1188+1305G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074381
chr17:55074418 C
C
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1188+1342C>A
c.1188+1342C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074418
chr17:55074549 A
A
 G
G
 1 a0001c0002t0111g0046
a0001c0002t0111g0046
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1188+1473A>G
c.1188+1473A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074549
chr17:55074613 C
C
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1188+1537C>A
c.1188+1537C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074613
chr17:55074656 C
C
 T
T
 1 a0001c0001t0004g0238
a0001c0001t0004g0238
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1188+1580C>T
c.1188+1580C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074656
chr17:55074718 A
A
 G
G
 1 a0001c0001t0007g0162
a0001c0001t0007g0162
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.1188+1642A>G
c.1188+1642A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074718
chr17:55074727 C
C
 T
T
 1 a0001c0001t0007g0195
a0001c0001t0007g0195
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1188+1651C>T
c.1188+1651C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074727
chr17:55074875 A
A
 G
G
 1 a0001c0002t0110g0033
a0001c0002t0110g0033
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1188+1799A>G
c.1188+1799A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074875
chr17:55074987 T
T
 G
G
 24 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
others(21): Show 
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 24 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(21): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1188+1911T>G
c.1188+1911T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55074987
chr17:55075074 C
C
 T
T
 4 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(1): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 4 HG02257.hp2
HG02717.hp1
NA18522.hp2
others(1): Show 
HG02257.hp2
HG02717.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1188+1998C>T
c.1188+1998C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075074
chr17:55075105 A
A
 G
G
 1 a0002c0003t0088g0125
a0002c0003t0088g0125
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1188+2029A>G
c.1188+2029A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075105
chr17:55075122 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1188+2046G>A
c.1188+2046G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075122
chr17:55075134 A
A
 G
G
 1 a0001c0001t0063g0040
a0001c0001t0063g0040
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1188+2058A>G
c.1188+2058A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075134
chr17:55075144 C
C
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1188+2068C>G
c.1188+2068C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075144
chr17:55075171 T
T
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1188+2095T>C
c.1188+2095T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075171
chr17:55075234 C
C
 T
T
 3 a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
 3 HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
 intron_variant MODIFIER c.1188+2158C>T
c.1188+2158C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075234
chr17:55075405 A
A
 C
C
 1 a0001c0002t0002g0041
a0001c0002t0002g0041
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1188+2329A>C
c.1188+2329A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075405
chr17:55075744 G
G
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1189-2334G>C
c.1189-2334G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075744
chr17:55075848 A
A
 T
T
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1189-2230A>T
c.1189-2230A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075848
chr17:55075927 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1189-2151C>T
c.1189-2151C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55075927
chr17:55076033 G
G
 T
T
 1 a0003c0004t0015g0279
a0003c0004t0015g0279
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1189-2045G>T
c.1189-2045G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076033
chr17:55076102 A
A
 G
G
 4 a0001c0001t0003g0211
a0001c0001t0003g0280
a0001c0001t0003g0289
others(1): Show 
a0001c0001t0003g0211
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0316
 4 HG01258.hp2
HG01361.hp2
HG01433.hp2
others(1): Show 
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01934.hp2
 intron_variant MODIFIER c.1189-1976A>G
c.1189-1976A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076102
chr17:55076209 T
T
 A
A
 2 a0001c0002t0005g0089
a0001c0002t0112g0086
a0001c0002t0005g0089
a0001c0002t0112g0086
 2 HG00639.hp1
HG00733.hp2
HG00639.hp1
HG00733.hp2
 intron_variant MODIFIER c.1189-1869T>A
c.1189-1869T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076209
chr17:55076252 T
T
 C
C
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1189-1826T>C
c.1189-1826T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076252
chr17:55076260 C
C
 T
T
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1189-1818C>T
c.1189-1818C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076260
chr17:55076493 C
C
 G
G
 1 a0001c0001t0001g0208
a0001c0001t0001g0208
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.1189-1585C>G
c.1189-1585C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076493
chr17:55076672 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1189-1406G>A
c.1189-1406G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076672
chr17:55076749 G
G
 A
A
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1189-1329G>A
c.1189-1329G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076749
chr17:55076849 T
T
 C
C
 1 a0001c0001t0003g0326
a0001c0001t0003g0326
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1189-1229T>C
c.1189-1229T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076849
chr17:55076853 T
T
 C
C
 1 a0001c0001t0010g0270
a0001c0001t0010g0270
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1189-1225T>C
c.1189-1225T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076853
chr17:55076884 G
G
 T
T
 41 a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
others(38): Show 
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0102g0056
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0125g0042
a0001c0002t0128g0057
 43 HG00621.hp2
HG02027.hp1
HG02040.hp1
others(40): Show 
HG00621.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02165.hp2
HG02572.hp1
HG02735.hp2
HG03225.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.1189-1194G>T
c.1189-1194G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55076884
chr17:55077209 G
G
 A
A
 5 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(2): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0080g0114
 5 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(2): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.1189-869G>A
c.1189-869G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077209
chr17:55077304 G
G
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1189-774G>C
c.1189-774G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077304
chr17:55077461 A
A
 G
G
 2 a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0188
a0001c0001t0001g0189
 2 HG03490.hp1
HG03492.hp2
HG03490.hp1
HG03492.hp2
 intron_variant MODIFIER c.1189-617A>G
c.1189-617A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077461
chr17:55077582 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1189-496A>G
c.1189-496A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077582
chr17:55077597 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1189-481G>A
c.1189-481G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077597
chr17:55077617 G
G
 GCTCACTT
others(51): Show 
GCTCACTTGGCATCGCTGTTGCATGTCTCCATGGAATTCCTTTACTTCCT
TGCTAGCTT
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1189-460_1189-403d
others(60): Show 
c.1189-460_1189-403dupCTCACTTGGCATCGCTGTTGCATGTCTC
CATGGAATTCCTTTACTTCCTTGCTAGCTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077617
chr17:55077638 C
C
 A
A
 1 a0001c0002t0005g0075
a0001c0002t0005g0075
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.1189-440C>A
c.1189-440C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077638
chr17:55077639 A
A
 C
C
 1 a0001c0002t0005g0075
a0001c0002t0005g0075
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.1189-439A>C
c.1189-439A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077639
chr17:55077686 C
C
 CGT
CGT
 130 a0001c0001t0001g0006
a0001c0001t0001g0082
a0001c0001t0001g0155
others(127): Show 
a0001c0001t0001g0006
a0001c0001t0001g0082
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0169
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0316
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0248
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0114g0026
a0001c0001t0116g0287
a0001c0001t0120g0184
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0002g0034
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0004g0085
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0126g0072
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0002c0003t0006g0140
a0002c0003t0079g0127
a0003c0004t0013g0260
a0003c0004t0013g0263
a0003c0004t0066g0362
a0003c0004t0077g0363
a0006c0013t0001g0182
 132 HG00099.hp1
HG00280.hp2
HG00423.hp1
others(129): Show 
HG00099.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00621.hp1
HG00639.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp2
HG01175.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02965.hp1
HG03098.hp1
HG03195.hp2
HG03471.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19067.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1189-349_1189-348d
others(4): Show 
c.1189-349_1189-348dupGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077686 C
C
 CGTGT
CGTGT
 91 a0001c0001t0001g0080
a0001c0001t0001g0084
a0001c0001t0001g0160
others(88): Show 
a0001c0001t0001g0080
a0001c0001t0001g0084
a0001c0001t0001g0160
a0001c0001t0001g0171
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0218
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0003g0280
a0001c0001t0003g0294
a0001c0001t0003g0309
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0005g0193
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0008g0352
a0001c0001t0009g0110
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0223
a0001c0001t0018g0226
a0001c0001t0023g0343
a0001c0001t0050g0360
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0117g0158
a0001c0001t0121g0190
a0001c0001t0127g0215
a0001c0002t0005g0101
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0124
a0002c0003t0006g0119
a0002c0003t0006g0135
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0131
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0089g0143
a0003c0004t0013g0262
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
a0005c0015t0011g0023
a0009c0008t0021g0267
 91 HG00438.hp1
HG00558.hp2
HG00642.hp1
others(88): Show 
HG00438.hp1
HG00558.hp2
HG00642.hp1
HG01071.hp2
HG01081.hp1
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01258.hp1
HG01433.hp2
HG01517.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02155.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02451.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02738.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18941.hp1
NA18946.hp2
NA18947.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18962.hp1
NA18963.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp2
NA18989.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp1
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp2
NA19062.hp2
NA19063.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
 intron_variant MODIFIER c.1189-351_1189-348d
others(6): Show 
c.1189-351_1189-348dupGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077686 C
C
 CGTGTGT
CGTGTGT
 24 a0001c0001t0007g0081
a0001c0001t0007g0181
a0001c0001t0007g0195
others(21): Show 
a0001c0001t0007g0081
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0217
a0001c0001t0012g0228
a0001c0001t0018g0224
a0001c0001t0029g0115
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0087g0117
a0001c0001t0098g0257
a0001c0001t0115g0028
a0001c0001t0134g0233
a0001c0002t0108g0097
a0002c0003t0004g0123
a0002c0003t0011g0120
a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0088g0125
a0003c0004t0021g0331
 25 HG01928.hp1
HG01993.hp1
HG02055.hp2
others(22): Show 
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02145.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02809.hp1
HG03098.hp2
HG03139.hp2
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03688.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18948.hp1
NA18973.hp2
NA18998.hp2
NA19043.hp2
NA19074.hp1
 intron_variant MODIFIER c.1189-353_1189-348d
others(8): Show 
c.1189-353_1189-348dupGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077686 C
C
 CGTGTGTG
others(1): Show 
CGTGTGTGT
 6 a0001c0001t0001g0170
a0001c0001t0001g0175
a0001c0001t0001g0209
others(3): Show 
a0001c0001t0001g0170
a0001c0001t0001g0175
a0001c0001t0001g0209
a0001c0001t0029g0116
a0001c0002t0002g0058
a0002c0003t0006g0138
 6 HG01361.hp1
HG01943.hp1
HG02071.hp1
others(3): Show 
HG01361.hp1
HG01943.hp1
HG02071.hp1
HG03225.hp1
HG03579.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1189-355_1189-348d
others(10): Show 
c.1189-355_1189-348dupGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077686 C
C
 CGTGTGTG
others(3): Show 
CGTGTGTGTGT
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1189-357_1189-348d
others(12): Show 
c.1189-357_1189-348dupGTGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077686 CGT
CGT
 C
C
 10 a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
others(7): Show 
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0090g0012
a0001c0002t0005g0075
a0001c0002t0005g0103
a0001c0002t0005g0105
a0001c0002t0104g0077
a0004c0007t0020g0009
a0004c0007t0020g0010
 10 HG01106.hp2
HG01169.hp1
HG01261.hp1
others(7): Show 
HG01106.hp2
HG01169.hp1
HG01261.hp1
HG01517.hp1
HG02615.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03139.hp1
 intron_variant MODIFIER c.1189-349_1189-348d
others(4): Show 
c.1189-349_1189-348delGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077686 CGTGTGTG
others(5): Show 
CGTGTGTGTGTGT
 C
C
 2 a0001c0001t0018g0221
a0003c0006t0092g0113
a0001c0001t0018g0221
a0003c0006t0092g0113
 2 HG01109.hp1
HG03579.hp2
HG01109.hp1
HG03579.hp2
 intron_variant MODIFIER c.1189-359_1189-348d
others(14): Show 
c.1189-359_1189-348delGTGTGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077686 CGTGTGTG
others(7): Show 
CGTGTGTGTGTGTGT
 C
C
 2 a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0039g0032
a0001c0002t0039g0037
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 intron_variant MODIFIER c.1189-361_1189-348d
others(16): Show 
c.1189-361_1189-348delGTGTGTGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077686 CGTGTGTG
others(9): Show 
CGTGTGTGTGTGTGTGT
 C
C
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1189-363_1189-348d
others(18): Show 
c.1189-363_1189-348delGTGTGTGTGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 INFO_REALIGN_3_PRIME chr17 55077686
chr17:55077797 A
A
 G
G
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-281A>G
c.1189-281A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077797
chr17:55077799 A
A
 T
T
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-279A>T
c.1189-279A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077799
chr17:55077800 A
A
 T
T
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-278A>T
c.1189-278A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077800
chr17:55077801 C
C
 G
G
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-277C>G
c.1189-277C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077801
chr17:55077802 A
A
 C
C
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-276A>C
c.1189-276A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077802
chr17:55077803 A
A
 T
T
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-275A>T
c.1189-275A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077803
chr17:55077804 A
A
 G
G
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-274A>G
c.1189-274A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077804
chr17:55077808 A
A
 G
G
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-270A>G
c.1189-270A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077808
chr17:55077815 A
A
 T
T
 1 a0001c0001t0119g0148
a0001c0001t0119g0148
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1189-263A>T
c.1189-263A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077815
chr17:55077919 T
T
 C
C
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1189-159T>C
c.1189-159T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 13/17 chr17 55077919
chr17:55078305 C
C
 T
T
 100 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(97): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 101 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(98): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1305+111C>T
c.1305+111C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 14/17 chr17 55078305
chr17:55078407 G
G
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1305+213G>T
c.1305+213G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 14/17 chr17 55078407
chr17:55078532 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1306-154C>T
c.1306-154C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 14/17 chr17 55078532
chr17:55078551 T
T
 C
C
 1 a0001c0001t0115g0028
a0001c0001t0115g0028
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1306-135T>C
c.1306-135T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 14/17 chr17 55078551
chr17:55078619 G
G
 A
A
 1 a0001c0001t0008g0338
a0001c0001t0008g0338
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1306-67G>A
c.1306-67G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 14/17 chr17 55078619
chr17:55078839 G
G
 A
A
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1355+104G>A
c.1355+104G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55078839
chr17:55078843 C
C
 T
T
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1355+108C>T
c.1355+108C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55078843
chr17:55078844 A
A
 T
T
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1355+109A>T
c.1355+109A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55078844
chr17:55078848 C
C
 A
A
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1355+113C>A
c.1355+113C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55078848
chr17:55078904 C
C
 T
T
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1355+169C>T
c.1355+169C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55078904
chr17:55078943 C
C
 A
A
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1355+208C>A
c.1355+208C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55078943
chr17:55078971 G
G
 T
T
 2 a0002c0003t0006g0003
a0002c0003t0083g0132
a0002c0003t0006g0003
a0002c0003t0083g0132
 3 HG01168.hp2
HG01169.hp2
HG03834.hp2
HG01168.hp2
HG01169.hp2
HG03834.hp2
 intron_variant MODIFIER c.1355+236G>T
c.1355+236G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55078971
chr17:55079009 A
A
 G
G
 1 a0001c0001t0010g0282
a0001c0001t0010g0282
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.1355+274A>G
c.1355+274A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079009
chr17:55079188 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1355+453A>G
c.1355+453A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079188
chr17:55079216 C
C
 A
A
 4 a0001c0001t0008g0333
a0001c0001t0008g0347
a0001c0001t0023g0343
others(1): Show 
a0001c0001t0008g0333
a0001c0001t0008g0347
a0001c0001t0023g0343
a0001c0001t0048g0346
 4 NA18946.hp1
NA19068.hp1
NA19070.hp1
others(1): Show 
NA18946.hp1
NA19068.hp1
NA19070.hp1
NA19075.hp2
 intron_variant MODIFIER c.1355+481C>A
c.1355+481C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079216
chr17:55079379 A
A
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1355+644A>C
c.1355+644A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079379
chr17:55079449 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1355+714G>A
c.1355+714G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079449
chr17:55079515 T
T
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1355+780T>G
c.1355+780T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079515
chr17:55079533 G
G
 A
A
 1 a0001c0002t0005g0093
a0001c0002t0005g0093
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1355+798G>A
c.1355+798G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079533
chr17:55079598 CA
CA
 C
C
 327 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(324): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 331 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(328): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1355+880delA
c.1355+880delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 INFO_REALIGN_3_PRIME chr17 55079598
chr17:55079630 G
G
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1355+895G>T
c.1355+895G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079630
chr17:55079828 G
G
 A
A
 307 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(304): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 311 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(308): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1355+1093G>A
c.1355+1093G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55079828
chr17:55080009 G
G
 T
T
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.1356-1041G>T
c.1356-1041G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55080009
chr17:55080033 C
C
 T
T
 187 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(184): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0073g0259
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 190 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(187): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1356-1017C>T
c.1356-1017C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55080033
chr17:55080569 T
T
 A
A
 1 a0001c0001t0003g0283
a0001c0001t0003g0283
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.1356-481T>A
c.1356-481T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55080569
chr17:55080745 G
G
 A
A
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1356-305G>A
c.1356-305G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55080745
chr17:55080746 C
C
 G
G
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1356-304C>G
c.1356-304C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55080746
chr17:55080821 A
A
 G
G
 11 a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0207
others(8): Show 
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0218
a0001c0001t0002g0168
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0127g0215
 11 HG00673.hp2
HG01433.hp1
HG02738.hp2
others(8): Show 
HG00673.hp2
HG01433.hp1
HG02738.hp2
NA18612.hp1
NA18963.hp2
NA18989.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19054.hp1
NA19079.hp2
 intron_variant MODIFIER c.1356-229A>G
c.1356-229A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55080821
chr17:55080883 A
A
 G
G
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1356-167A>G
c.1356-167A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55080883
chr17:55081000 G
G
 A
A
 182 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(179): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 185 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(182): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1356-50G>A
c.1356-50G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 15/17 chr17 55081000
chr17:55081261 G
G
 A
A
 3 a0001c0001t0008g0340
a0003c0004t0028g0364
a0003c0004t0059g0365
a0001c0001t0008g0340
a0003c0004t0028g0364
a0003c0004t0059g0365
 3 HG02257.hp1
HG02723.hp1
NA19057.hp1
HG02257.hp1
HG02723.hp1
NA19057.hp1
 intron_variant MODIFIER c.1489+78G>A
c.1489+78G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55081261
chr17:55081445 C
C
 T
T
 1 a0001c0001t0058g0255
a0001c0001t0058g0255
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1489+262C>T
c.1489+262C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55081445
chr17:55081446 G
G
 A
A
 2 a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0188
a0001c0001t0001g0189
 2 HG03490.hp1
HG03492.hp2
HG03490.hp1
HG03492.hp2
 intron_variant MODIFIER c.1489+263G>A
c.1489+263G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55081446
chr17:55081458 G
G
 A
A
 1 a0001c0001t0008g0341
a0001c0001t0008g0341
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.1489+275G>A
c.1489+275G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55081458
chr17:55081604 A
A
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+421A>T
c.1489+421A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55081604
chr17:55081868 A
A
 G
G
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.1489+685A>G
c.1489+685A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55081868
chr17:55081908 A
A
 G
G
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1489+725A>G
c.1489+725A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55081908
chr17:55081912 T
T
 C
C
 338 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(335): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 342 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(339): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+729T>C
c.1489+729T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55081912
chr17:55082001 C
C
 T
T
 1 a0001c0001t0123g0029
a0001c0001t0123g0029
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1489+818C>T
c.1489+818C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082001
chr17:55082039 C
C
 T
T
 1 a0001c0001t0012g0149
a0001c0001t0012g0149
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1489+856C>T
c.1489+856C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082039
chr17:55082040 C
C
 G
G
 120 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(117): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0002c0003t0051g0136
a0002c0003t0054g0141
a0006c0013t0001g0182
 121 HG00423.hp1
HG00438.hp1
HG00438.hp2
others(118): Show 
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+857C>G
c.1489+857C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082040
chr17:55082070 C
C
 CA
CA
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
 5 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(2): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+889dupA
c.1489+889dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55082070
chr17:55082128 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+945T>C
c.1489+945T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082128
chr17:55082189 A
A
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1489+1006A>C
c.1489+1006A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082189
chr17:55082265 G
G
 C
C
 74 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(71): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 75 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+1082G>C
c.1489+1082G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082265
chr17:55082352 A
A
 G
G
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1489+1169A>G
c.1489+1169A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082352
chr17:55082471 T
T
 G
G
 314 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(311): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 318 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(315): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+1288T>G
c.1489+1288T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082471
chr17:55082566 G
G
 A
A
 121 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(118): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0006t0094g0022
a0006c0013t0001g0182
 122 HG00423.hp1
HG00438.hp1
HG00438.hp2
others(119): Show 
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+1383G>A
c.1489+1383G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082566
chr17:55082610 C
C
 T
T
 1 a0002c0003t0006g0140
a0002c0003t0006g0140
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.1489+1427C>T
c.1489+1427C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082610
chr17:55082663 C
C
 T
T
 3 a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
 3 HG02145.hp2
HG02717.hp2
HG03130.hp1
HG02145.hp2
HG02717.hp2
HG03130.hp1
 intron_variant MODIFIER c.1489+1480C>T
c.1489+1480C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082663
chr17:55082710 G
G
 A
A
 2 a0001c0001t0001g0160
a0001c0001t0001g0210
a0001c0001t0001g0160
a0001c0001t0001g0210
 2 HG01081.hp1
HG01255.hp2
HG01081.hp1
HG01255.hp2
 intron_variant MODIFIER c.1489+1527G>A
c.1489+1527G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082710
chr17:55082747 C
C
 G
G
 74 a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
others(71): Show 
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 76 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+1564C>G
c.1489+1564C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082747
chr17:55082767 A
A
 G
G
 10 a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0064
others(7): Show 
a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0002t0107g0045
 11 HG02132.hp1
NA18945.hp2
NA18964.hp2
others(8): Show 
HG02132.hp1
NA18945.hp2
NA18964.hp2
NA18969.hp2
NA18982.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19060.hp2
NA19063.hp2
 intron_variant MODIFIER c.1489+1584A>G
c.1489+1584A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082767
chr17:55082793 G
G
 A
A
 195 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(192): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 198 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(195): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18962.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1489+1610G>A
c.1489+1610G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55082793
chr17:55082968 A
A
 AT
AT
 25 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0099g0021
others(22): Show 
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0099g0021
a0001c0001t0132g0268
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 25 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(22): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03471.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+1796dupT
c.1489+1796dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55082968
chr17:55083087 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+1904G>A
c.1489+1904G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083087
chr17:55083144 T
T
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+1961T>G
c.1489+1961T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083144
chr17:55083167 G
G
 A
A
 1 a0004c0007t0020g0010
a0004c0007t0020g0010
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1489+1984G>A
c.1489+1984G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083167
chr17:55083181 C
C
 T
T
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.1489+1998C>T
c.1489+1998C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083181
chr17:55083275 C
C
 T
T
 4 a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
others(1): Show 
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0209
 4 HG01346.hp2
HG01361.hp1
HG01943.hp1
others(1): Show 
HG01346.hp2
HG01361.hp1
HG01943.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+2092C>T
c.1489+2092C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083275
chr17:55083534 A
A
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1489+2351A>G
c.1489+2351A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083534
chr17:55083541 AT
AT
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+2360delT
c.1489+2360delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55083541
chr17:55083571 C
C
 A
A
 6 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(3): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0073g0259
a0001c0001t0098g0257
a0001c0001t0099g0021
 6 HG00673.hp2
HG01433.hp1
HG03471.hp1
others(3): Show 
HG00673.hp2
HG01433.hp1
HG03471.hp1
HG04228.hp2
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+2388C>A
c.1489+2388C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083571
chr17:55083585 G
G
 T
T
 105 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(102): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 106 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(103): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+2402G>T
c.1489+2402G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083585
chr17:55083645 G
G
 C
C
 3 a0001c0002t0002g0034
a0001c0002t0002g0059
a0001c0002t0125g0042
a0001c0002t0002g0034
a0001c0002t0002g0059
a0001c0002t0125g0042
 3 NA18939.hp2
NA18961.hp1
NA19082.hp2
NA18939.hp2
NA18961.hp1
NA19082.hp2
 intron_variant MODIFIER c.1489+2462G>C
c.1489+2462G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083645
chr17:55083854 C
C
 T
T
 3 a0001c0001t0001g0160
a0001c0001t0004g0253
a0001c0001t0060g0242
a0001c0001t0001g0160
a0001c0001t0004g0253
a0001c0001t0060g0242
 3 HG01081.hp1
HG02027.hp2
NA18981.hp1
HG01081.hp1
HG02027.hp2
NA18981.hp1
 intron_variant MODIFIER c.1489+2671C>T
c.1489+2671C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55083854
chr17:55084088 G
G
 C
C
 10 a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0064
others(7): Show 
a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0002t0107g0045
 11 HG02132.hp1
NA18945.hp2
NA18964.hp2
others(8): Show 
HG02132.hp1
NA18945.hp2
NA18964.hp2
NA18969.hp2
NA18982.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19060.hp2
NA19063.hp2
 intron_variant MODIFIER c.1489+2905G>C
c.1489+2905G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084088
chr17:55084209 C
C
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+3026C>A
c.1489+3026C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084209
chr17:55084422 T
T
 C
C
 120 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(117): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0134g0233
a0001c0011t0001g0156
a0002c0003t0051g0136
a0002c0003t0054g0141
a0006c0013t0001g0182
 121 HG00423.hp1
HG00438.hp1
HG00438.hp2
others(118): Show 
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02622.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+3239T>C
c.1489+3239T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084422
chr17:55084509 G
G
 T
T
 105 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(102): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 106 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(103): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+3326G>T
c.1489+3326G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084509
chr17:55084541 C
C
 T
T
 1 a0001c0001t0046g0281
a0001c0001t0046g0281
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1489+3358C>T
c.1489+3358C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084541
chr17:55084658 A
A
 G
G
 1 a0003c0006t0092g0113
a0003c0006t0092g0113
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1489+3475A>G
c.1489+3475A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084658
chr17:55084662 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+3479G>A
c.1489+3479G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084662
chr17:55084676 A
A
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+3493A>C
c.1489+3493A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084676
chr17:55084678 C
C
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+3495C>A
c.1489+3495C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084678
chr17:55084689 T
T
 A
A
 1 a0002c0003t0011g0131
a0002c0003t0011g0131
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.1489+3506T>A
c.1489+3506T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084689
chr17:55084799 C
C
 T
T
 2 a0001c0001t0074g0011
a0001c0001t0114g0026
a0001c0001t0074g0011
a0001c0001t0114g0026
 2 HG02559.hp1
HG03225.hp2
HG02559.hp1
HG03225.hp2
 intron_variant MODIFIER c.1489+3616C>T
c.1489+3616C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084799
chr17:55084807 T
T
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1489+3624T>G
c.1489+3624T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084807
chr17:55084852 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1489+3669G>A
c.1489+3669G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084852
chr17:55084866 A
A
 C
C
 371 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(368): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 377 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(374): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.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
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
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.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
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+3683A>C
c.1489+3683A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084866
chr17:55084923 G
G
 A
A
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1489+3740G>A
c.1489+3740G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084923
chr17:55084935 A
A
 G
G
 1 a0001c0001t0117g0158
a0001c0001t0117g0158
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1489+3752A>G
c.1489+3752A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084935
chr17:55084980 C
C
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+3797C>G
c.1489+3797C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55084980
chr17:55085021 A
A
 G
G
 78 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(75): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 80 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(77): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+3838A>G
c.1489+3838A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085021
chr17:55085125 G
G
 A
A
 74 a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
others(71): Show 
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 76 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+3942G>A
c.1489+3942G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085125
chr17:55085264 C
C
 T
T
 1 a0001c0001t0115g0028
a0001c0001t0115g0028
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1489+4081C>T
c.1489+4081C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085264
chr17:55085311 A
A
 G
G
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+4128A>G
c.1489+4128A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085311
chr17:55085358 T
T
 TA
TA
 81 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(78): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0096g0062
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 82 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(79): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02976.hp1
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+4184dupA
c.1489+4184dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55085358
chr17:55085492 C
C
 T
T
 1 a0001c0002t0005g0099
a0001c0002t0005g0099
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1489+4309C>T
c.1489+4309C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085492
chr17:55085533 C
C
 T
T
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1489+4350C>T
c.1489+4350C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085533
chr17:55085742 A
A
 G
G
 1 a0001c0001t0017g0288
a0001c0001t0017g0288
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.1489+4559A>G
c.1489+4559A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085742
chr17:55085849 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+4666C>T
c.1489+4666C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085849
chr17:55085862 C
C
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+4679C>T
c.1489+4679C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085862
chr17:55085999 T
T
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+4816T>A
c.1489+4816T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55085999
chr17:55086117 T
T
 A
A
 333 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(330): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0002c0003t0088g0125
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 337 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(334): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+4934T>A
c.1489+4934T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086117
chr17:55086196 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+5013A>G
c.1489+5013A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086196
chr17:55086312 A
A
 G
G
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1489+5129A>G
c.1489+5129A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086312
chr17:55086339 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+5156C>T
c.1489+5156C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086339
chr17:55086481 A
A
 G
G
 1 a0002c0003t0016g0004
a0002c0003t0016g0004
 2 HG01928.hp1
HG01993.hp1
HG01928.hp1
HG01993.hp1
 intron_variant MODIFIER c.1489+5298A>G
c.1489+5298A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086481
chr17:55086543 C
C
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+5360C>A
c.1489+5360C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086543
chr17:55086554 C
C
 T
T
 4 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(1): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 4 HG02257.hp2
HG02717.hp1
NA18522.hp2
others(1): Show 
HG02257.hp2
HG02717.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1489+5371C>T
c.1489+5371C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086554
chr17:55086637 A
A
 G
G
 1 a0001c0002t0005g0089
a0001c0002t0005g0089
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.1489+5454A>G
c.1489+5454A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086637
chr17:55086676 C
C
 G
G
 329 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(326): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 333 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(330): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
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.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+5493C>G
c.1489+5493C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086676
chr17:55086798 A
A
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+5615A>T
c.1489+5615A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086798
chr17:55086834 C
C
 A
A
 2 a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0027g0244
a0001c0001t0027g0249
 2 NA18953.hp1
NA18978.hp2
NA18953.hp1
NA18978.hp2
 intron_variant MODIFIER c.1489+5651C>A
c.1489+5651C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086834
chr17:55086851 A
A
 C
C
 3 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
 3 HG02280.hp2
HG02630.hp1
HG02965.hp1
HG02280.hp2
HG02630.hp1
HG02965.hp1
 intron_variant MODIFIER c.1489+5668A>C
c.1489+5668A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086851
chr17:55086882 G
G
 A
A
 184 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(181): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0073g0259
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0114g0026
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 187 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(184): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19060.hp2
NA19062.hp1
NA19063.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1489+5699G>A
c.1489+5699G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086882
chr17:55086943 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+5760A>G
c.1489+5760A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55086943
chr17:55087082 A
A
 G
G
 74 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(71): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 75 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+5899A>G
c.1489+5899A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55087082
chr17:55087303 T
T
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+6120T>G
c.1489+6120T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55087303
chr17:55087356 C
C
 T
T
 5 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(2): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0080g0114
 5 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(2): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.1489+6173C>T
c.1489+6173C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55087356
chr17:55087491 G
G
 A
A
 2 a0003c0004t0021g0331
a0009c0008t0021g0267
a0003c0004t0021g0331
a0009c0008t0021g0267
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 intron_variant MODIFIER c.1489+6308G>A
c.1489+6308G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55087491
chr17:55087769 C
C
 T
T
 1 a0001c0001t0019g0015
a0001c0001t0019g0015
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1489+6586C>T
c.1489+6586C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55087769
chr17:55087770 G
G
 A
A
 1 a0001c0001t0115g0028
a0001c0001t0115g0028
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1489+6587G>A
c.1489+6587G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55087770
chr17:55087807 T
T
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+6624T>C
c.1489+6624T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55087807
chr17:55088075 A
A
 G
G
 1 a0001c0001t0007g0083
a0001c0001t0007g0083
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1489+6892A>G
c.1489+6892A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088075
chr17:55088235 T
T
 C
C
 1 a0001c0001t0001g0159
a0001c0001t0001g0159
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1489+7052T>C
c.1489+7052T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088235
chr17:55088371 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+7188A>G
c.1489+7188A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088371
chr17:55088438 C
C
 T
T
 11 a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
others(8): Show 
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0209
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
 11 HG01346.hp2
HG01361.hp1
HG01943.hp1
others(8): Show 
HG01346.hp2
HG01361.hp1
HG01943.hp1
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+7255C>T
c.1489+7255C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088438
chr17:55088575 T
T
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+7392T>G
c.1489+7392T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088575
chr17:55088746 G
G
 A
A
 1 a0001c0001t0090g0012
a0001c0001t0090g0012
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1489+7563G>A
c.1489+7563G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088746
chr17:55088853 T
T
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+7670T>G
c.1489+7670T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088853
chr17:55088865 C
C
 T
T
 1 a0001c0001t0134g0233
a0001c0001t0134g0233
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1489+7682C>T
c.1489+7682C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088865
chr17:55088962 A
A
 G
G
 95 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(92): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0011t0001g0156
a0006c0013t0001g0182
 96 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(93): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18963.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+7779A>G
c.1489+7779A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55088962
chr17:55089078 T
T
 C
C
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1489+7895T>C
c.1489+7895T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089078
chr17:55089134 T
T
 A
A
 305 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(302): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0073g0259
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 309 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(306): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+7951T>A
c.1489+7951T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089134
chr17:55089166 G
G
 A
A
 1 a0001c0001t0134g0233
a0001c0001t0134g0233
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1489+7983G>A
c.1489+7983G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089166
chr17:55089290 G
G
 A
A
 329 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(326): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 333 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(330): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
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.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+8107G>A
c.1489+8107G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089290
chr17:55089320 G
G
 C
C
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1489+8137G>C
c.1489+8137G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089320
chr17:55089413 T
T
 C
C
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+8230T>C
c.1489+8230T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089413
chr17:55089499 G
G
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1489+8316G>T
c.1489+8316G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089499
chr17:55089668 A
A
 G
G
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+8485A>G
c.1489+8485A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089668
chr17:55089784 G
G
 T
T
 2 a0001c0002t0002g0002
a0001c0002t0002g0063
a0001c0002t0002g0002
a0001c0002t0002g0063
 3 NA18998.hp1
NA18999.hp2
NA19060.hp2
NA18998.hp1
NA18999.hp2
NA19060.hp2
 intron_variant MODIFIER c.1489+8601G>T
c.1489+8601G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089784
chr17:55089839 A
A
 G
G
 2 a0001c0002t0002g0090
a0001c0002t0105g0092
a0001c0002t0002g0090
a0001c0002t0105g0092
 2 HG03491.hp1
HG04204.hp1
HG03491.hp1
HG04204.hp1
 intron_variant MODIFIER c.1489+8656A>G
c.1489+8656A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55089839
chr17:55090091 C
C
 T
T
 77 a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
others(74): Show 
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 79 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(76): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+8908C>T
c.1489+8908C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090091
chr17:55090159 C
C
 T
T
 5 a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
others(2): Show 
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
 5 NA18975.hp2
NA18982.hp1
NA19002.hp1
others(2): Show 
NA18975.hp2
NA18982.hp1
NA19002.hp1
NA19084.hp2
NA19088.hp1
 intron_variant MODIFIER c.1489+8976C>T
c.1489+8976C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090159
chr17:55090282 A
A
 G
G
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1489+9099A>G
c.1489+9099A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090282
chr17:55090395 C
C
 G
G
 1 a0001c0001t0003g0328
a0001c0001t0003g0328
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.1489+9212C>G
c.1489+9212C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090395
chr17:55090479 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1489+9296G>A
c.1489+9296G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090479
chr17:55090568 G
G
 A
A
 1 a0001c0002t0002g0044
a0001c0002t0002g0044
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1489+9385G>A
c.1489+9385G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090568
chr17:55090569 A
A
 G
G
 2 a0001c0001t0003g0305
a0001c0001t0043g0308
a0001c0001t0003g0305
a0001c0001t0043g0308
 2 HG02735.hp1
HG03942.hp1
HG02735.hp1
HG03942.hp1
 intron_variant MODIFIER c.1489+9386A>G
c.1489+9386A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090569
chr17:55090708 G
G
 T
T
 1 a0001c0001t0007g0217
a0001c0001t0007g0217
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1489+9525G>T
c.1489+9525G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090708
chr17:55090716 A
A
 C
C
 1 a0001c0001t0036g0154
a0001c0001t0036g0154
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.1489+9533A>C
c.1489+9533A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090716
chr17:55090779 G
G
 T
T
 1 a0003c0006t0094g0022
a0003c0006t0094g0022
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1489+9596G>T
c.1489+9596G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090779
chr17:55090835 TTGTGTGT
others(13): Show 
TTGTGTGTGTGTGTGTGTGTC
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+9672_1489+969
others(24): Show 
c.1489+9672_1489+9691delCTGTGTGTGTGTGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090835
chr17:55090841 GTGTGTGT
others(7): Show 
GTGTGTGTGTGTGTC
 G
G
 1 a0007c0010t0003g0298
a0007c0010t0003g0298
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1489+9672_1489+968
others(18): Show 
c.1489+9672_1489+9685delCTGTGTGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090841
chr17:55090843 GTGTGTGT
others(5): Show 
GTGTGTGTGTGTC
 G
G
 20 a0001c0001t0004g0236
a0001c0001t0004g0295
a0001c0001t0004g0299
others(17): Show 
a0001c0001t0004g0236
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0031g0269
a0001c0001t0040g0345
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0095g0329
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0132g0268
a0001c0002t0002g0058
a0001c0002t0004g0085
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0108g0097
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 20 HG00280.hp2
HG01358.hp2
HG02145.hp2
others(17): Show 
HG00280.hp2
HG01358.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03225.hp1
HG03704.hp1
NA18975.hp2
NA19002.hp1
NA19065.hp1
NA19088.hp1
 intron_variant MODIFIER c.1489+9672_1489+968
others(16): Show 
c.1489+9672_1489+9683delCTGTGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090843
chr17:55090845 GTGTGTGT
others(3): Show 
GTGTGTGTGTC
 G
G
 109 a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
others(106): Show 
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0209
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0214
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0056g0312
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0093g0237
a0001c0001t0114g0026
a0001c0001t0130g0027
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0009c0008t0021g0267
 110 HG00423.hp2
HG00438.hp2
HG00621.hp1
others(107): Show 
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00733.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp1
NA19091.hp2
NA20129.hp1
 intron_variant MODIFIER c.1489+9672_1489+968
others(14): Show 
c.1489+9672_1489+9681delCTGTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090845
chr17:55090847 GTGTGTGT
others(1): Show 
GTGTGTGTC
 G
G
 167 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(164): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0338
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0057g0317
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0059
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0109g0060
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0006c0013t0001g0182
 169 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(166): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02280.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18977.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+9672_1489+967
others(12): Show 
c.1489+9672_1489+9679delCTGTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090847
chr17:55090849 GTGTGTC
GTGTGTC
 G
G
 19 a0001c0001t0001g0155
a0001c0001t0001g0220
a0001c0001t0009g0017
others(16): Show 
a0001c0001t0001g0155
a0001c0001t0001g0220
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0058g0255
a0001c0001t0071g0109
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0096g0062
a0001c0002t0005g0091
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 19 HG00423.hp1
HG01243.hp1
HG01433.hp1
others(16): Show 
HG00423.hp1
HG01243.hp1
HG01433.hp1
HG02257.hp2
HG02717.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03130.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03688.hp1
NA18522.hp2
NA19030.hp1
NA19066.hp1
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1489+9672_1489+967
others(10): Show 
c.1489+9672_1489+9677delCTGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090849
chr17:55090851 GTGTC
GTGTC
 G
G
 8 a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0074g0011
others(5): Show 
a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0087g0117
a0001c0002t0002g0001
a0001c0002t0002g0061
a0002c0003t0011g0118
 9 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(6): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp1
NA18948.hp2
NA19084.hp1
NA19086.hp2
 intron_variant MODIFIER c.1489+9672_1489+967
others(8): Show 
c.1489+9672_1489+9675delCTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090851
chr17:55090853 G
G
 C
C
 2 a0001c0001t0034g0254
a0001c0001t0098g0257
a0001c0001t0034g0254
a0001c0001t0098g0257
 2 HG00673.hp2
NA18998.hp2
HG00673.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+9670G>C
c.1489+9670G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090853
chr17:55090855 C
C
 G
G
 3 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0098g0257
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0098g0257
 3 HG00673.hp2
NA18963.hp2
NA18998.hp2
HG00673.hp2
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+9672C>G
c.1489+9672C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090855
chr17:55090855 CTG
CTG
 C
C
 15 a0001c0001t0017g0288
a0001c0001t0068g0339
a0001c0001t0134g0233
others(12): Show 
a0001c0001t0017g0288
a0001c0001t0068g0339
a0001c0001t0134g0233
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0065g0121
a0002c0003t0086g0146
a0002c0003t0089g0143
 16 HG00099.hp2
HG01106.hp1
HG01175.hp2
others(13): Show 
HG00099.hp2
HG01106.hp1
HG01175.hp2
HG01255.hp1
HG01928.hp1
HG01993.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02622.hp2
HG03139.hp2
HG04115.hp1
HG04199.hp1
NA18978.hp1
NA19056.hp1
NA19063.hp1
 intron_variant MODIFIER c.1489+9710_1489+971
others(6): Show 
c.1489+9710_1489+9711delGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090855
chr17:55090855 CTGTG
CTGTG
 C
C
 21 a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
others(18): Show 
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
a0001c0001t0078g0234
a0001c0001t0082g0334
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0258
a0002c0003t0016g0130
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0002c0003t0084g0137
a0002c0003t0088g0125
a0005c0015t0011g0023
 21 HG00558.hp2
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01123.hp2
HG01358.hp1
HG01517.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02486.hp2
NA18612.hp2
NA18941.hp1
NA18962.hp1
NA18970.hp1
NA18973.hp1
NA18991.hp2
NA19004.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1489+9708_1489+971
others(8): Show 
c.1489+9708_1489+9711delGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55090855
chr17:55090857 G
G
 C
C
 8 a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0074g0011
others(5): Show 
a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0087g0117
a0001c0002t0002g0001
a0001c0002t0002g0061
a0002c0003t0011g0118
 9 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(6): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp1
NA18948.hp2
NA19084.hp1
NA19086.hp2
 intron_variant MODIFIER c.1489+9674G>C
c.1489+9674G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090857
chr17:55090859 G
G
 C
C
 19 a0001c0001t0001g0155
a0001c0001t0001g0220
a0001c0001t0009g0017
others(16): Show 
a0001c0001t0001g0155
a0001c0001t0001g0220
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0058g0255
a0001c0001t0071g0109
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0096g0062
a0001c0002t0005g0091
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 19 HG00423.hp1
HG01243.hp1
HG01433.hp1
others(16): Show 
HG00423.hp1
HG01243.hp1
HG01433.hp1
HG02257.hp2
HG02717.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03130.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03688.hp1
NA18522.hp2
NA19030.hp1
NA19066.hp1
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1489+9676G>C
c.1489+9676G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090859
chr17:55090861 G
G
 C
C
 167 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(164): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0338
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0057g0317
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0059
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0109g0060
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0006c0013t0001g0182
 169 HG00099.hp1
HG00280.hp1
HG00438.hp1
others(166): Show 
HG00099.hp1
HG00280.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02280.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18977.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+9678G>C
c.1489+9678G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090861
chr17:55090863 G
G
 C
C
 109 a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
others(106): Show 
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0209
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0214
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0056g0312
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0093g0237
a0001c0001t0114g0026
a0001c0001t0130g0027
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0009c0008t0021g0267
 110 HG00423.hp2
HG00438.hp2
HG00621.hp1
others(107): Show 
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00733.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19090.hp1
NA19091.hp2
NA20129.hp1
 intron_variant MODIFIER c.1489+9680G>C
c.1489+9680G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090863
chr17:55090865 G
G
 C
C
 20 a0001c0001t0004g0236
a0001c0001t0004g0295
a0001c0001t0004g0299
others(17): Show 
a0001c0001t0004g0236
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0031g0269
a0001c0001t0040g0345
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0095g0329
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0132g0268
a0001c0002t0002g0058
a0001c0002t0004g0085
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0108g0097
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 20 HG00280.hp2
HG01358.hp2
HG02145.hp2
others(17): Show 
HG00280.hp2
HG01358.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03225.hp1
HG03704.hp1
NA18975.hp2
NA19002.hp1
NA19065.hp1
NA19088.hp1
 intron_variant MODIFIER c.1489+9682G>C
c.1489+9682G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090865
chr17:55090867 G
G
 C
C
 1 a0007c0010t0003g0298
a0007c0010t0003g0298
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1489+9684G>C
c.1489+9684G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090867
chr17:55090979 G
G
 A
A
 98 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(95): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 99 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(96): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+9796G>A
c.1489+9796G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55090979
chr17:55091134 A
A
 C
C
 100 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(97): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0007c0010t0003g0298
a0009c0008t0021g0267
 101 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(98): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+9951A>C
c.1489+9951A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55091134
chr17:55091295 T
T
 C
C
 1 a0001c0001t0053g0324
a0001c0001t0053g0324
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.1489+10112T>C
c.1489+10112T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55091295
chr17:55091298 A
A
 G
G
 8 a0001c0002t0005g0031
a0001c0002t0005g0088
a0001c0002t0005g0091
others(5): Show 
a0001c0002t0005g0031
a0001c0002t0005g0088
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0096
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0113g0087
 8 HG00738.hp1
HG01106.hp2
HG02148.hp2
others(5): Show 
HG00738.hp1
HG01106.hp2
HG02148.hp2
HG02683.hp2
HG03490.hp2
HG03688.hp1
HG03704.hp2
NA20905.hp2
 intron_variant MODIFIER c.1489+10115A>G
c.1489+10115A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55091298
chr17:55091359 T
T
 C
C
 1 a0002c0003t0065g0121
a0002c0003t0065g0121
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1489+10176T>C
c.1489+10176T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55091359
chr17:55091576 G
G
 A
A
 1 a0001c0002t0005g0076
a0001c0002t0005g0076
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.1489+10393G>A
c.1489+10393G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55091576
chr17:55091726 T
T
 A
A
 2 a0001c0001t0103g0157
a0001c0001t0117g0158
a0001c0001t0103g0157
a0001c0001t0117g0158
 2 HG02040.hp2
HG02083.hp2
HG02040.hp2
HG02083.hp2
 intron_variant MODIFIER c.1489+10543T>A
c.1489+10543T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55091726
chr17:55091971 C
C
 T
T
 2 a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0005t0005g0024
a0001c0005t0005g0025
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.1489+10788C>T
c.1489+10788C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55091971
chr17:55091975 T
T
 C
C
 2 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0073g0259
a0001c0001t0099g0021
 2 HG03471.hp1
HG04228.hp2
HG03471.hp1
HG04228.hp2
 intron_variant MODIFIER c.1489+10792T>C
c.1489+10792T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55091975
chr17:55092110 G
G
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1489+10927G>C
c.1489+10927G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092110
chr17:55092119 A
A
 G
G
 1 a0001c0001t0018g0223
a0001c0001t0018g0223
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.1489+10936A>G
c.1489+10936A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092119
chr17:55092124 T
T
 C
C
 4 a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
others(1): Show 
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0209
 4 HG01346.hp2
HG01361.hp1
HG01943.hp1
others(1): Show 
HG01346.hp2
HG01361.hp1
HG01943.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+10941T>C
c.1489+10941T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092124
chr17:55092362 A
A
 G
G
 98 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(95): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 99 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(96): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+11179A>G
c.1489+11179A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092362
chr17:55092370 T
T
 TA
TA
 166 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(163): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0096g0062
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 169 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(166): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+11194dupA
c.1489+11194dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55092370
chr17:55092429 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+11246A>G
c.1489+11246A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092429
chr17:55092445 G
G
 T
T
 269 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(266): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0073g0259
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 273 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(270): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+11262G>T
c.1489+11262G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092445
chr17:55092522 A
A
 G
G
 165 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(162): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 168 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(165): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+11339A>G
c.1489+11339A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092522
chr17:55092538 A
A
 G
G
 1 a0001c0002t0038g0079
a0001c0002t0038g0079
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.1489+11355A>G
c.1489+11355A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092538
chr17:55092561 A
A
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+11378A>C
c.1489+11378A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092561
chr17:55092571 C
C
 G
G
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1489+11388C>G
c.1489+11388C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092571
chr17:55092857 G
G
 A
A
 1 a0001c0002t0005g0098
a0001c0002t0005g0098
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.1489+11674G>A
c.1489+11674G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092857
chr17:55092931 A
A
 G
G
 119 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(116): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0002t0004g0085
a0001c0011t0001g0156
a0002c0003t0051g0136
a0002c0003t0054g0141
a0006c0013t0001g0182
 120 HG00423.hp1
HG00438.hp1
HG00438.hp2
others(117): Show 
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+11748A>G
c.1489+11748A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55092931
chr17:55092966 TTTTTTTG
TTTTTTTG
 T
T
 98 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(95): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 99 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(96): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+11801_1489+11
others(13): Show 
c.1489+11801_1489+11807delTTTGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55092966
chr17:55092969 TTTTGTTT
others(11): Show 
TTTTGTTTTTTGTTTTTTG
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+11808_1489+11
others(24): Show 
c.1489+11808_1489+11825delGTTTTTTGTTTTTTGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55092969
chr17:55092991 G
G
 GT
GT
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+11814dupT
c.1489+11814dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55092991
chr17:55093055 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+11872C>T
c.1489+11872C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55093055
chr17:55093155 C
C
 A
A
 1 a0002c0003t0006g0119
a0002c0003t0006g0119
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1489+11972C>A
c.1489+11972C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55093155
chr17:55093203 C
C
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+12020C>T
c.1489+12020C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55093203
chr17:55093214 G
G
 A
A
 1 a0001c0002t0005g0099
a0001c0002t0005g0099
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1489+12031G>A
c.1489+12031G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55093214
chr17:55093268 G
G
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+12085G>T
c.1489+12085G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55093268
chr17:55093538 TTG
TTG
 T
T
 7 a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
others(4): Show 
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0009c0008t0021g0267
 7 HG01081.hp2
HG02257.hp1
HG02630.hp2
others(4): Show 
HG01081.hp2
HG02257.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG03540.hp2
NA19043.hp2
 intron_variant MODIFIER c.1489+12358_1489+12
others(8): Show 
c.1489+12358_1489+12359delTG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55093538
chr17:55093615 G
G
 A
A
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.1489+12432G>A
c.1489+12432G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55093615
chr17:55093624 T
T
 A
A
 74 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(71): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 75 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+12441T>A
c.1489+12441T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55093624
chr17:55093640 T
T
 C
C
 3 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
 3 HG02280.hp2
HG02630.hp1
HG02965.hp1
HG02280.hp2
HG02630.hp1
HG02965.hp1
 intron_variant MODIFIER c.1489+12457T>C
c.1489+12457T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55093640
chr17:55094076 C
C
 T
T
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 37 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1489+12893C>T
c.1489+12893C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094076
chr17:55094086 C
C
 T
T
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1489+12903C>T
c.1489+12903C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094086
chr17:55094165 G
G
 GA
GA
 155 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(152): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0097g0222
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 158 HG00280.hp1
HG00423.hp1
HG00438.hp1
others(155): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03130.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+13000dupA
c.1489+13000dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55094165
chr17:55094165 G
G
 GAA
GAA
 6 a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0129g0161
others(3): Show 
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0129g0161
a0001c0002t0002g0058
a0001c0002t0005g0091
a0001c0002t0108g0097
 6 HG01346.hp2
HG02572.hp1
HG03225.hp1
others(3): Show 
HG01346.hp2
HG02572.hp1
HG03225.hp1
HG03688.hp1
NA19067.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+12999_1489+13
others(8): Show 
c.1489+12999_1489+13000dupAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55094165
chr17:55094165 GA
GA
 G
G
 19 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(16): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0090g0012
a0001c0001t0098g0257
 19 HG00673.hp2
HG01433.hp1
HG02257.hp2
others(16): Show 
HG00673.hp2
HG01433.hp1
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18963.hp2
NA18998.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1489+13000delA
c.1489+13000delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55094165
chr17:55094201 G
G
 A
A
 1 a0001c0001t0007g0217
a0001c0001t0007g0217
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1489+13018G>A
c.1489+13018G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094201
chr17:55094239 A
A
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1489+13056A>G
c.1489+13056A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094239
chr17:55094313 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+13130G>A
c.1489+13130G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094313
chr17:55094324 C
C
 G
G
 83 a0001c0001t0073g0259
a0001c0001t0114g0026
a0001c0001t0115g0028
others(80): Show 
a0001c0001t0073g0259
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 85 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(82): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+13141C>G
c.1489+13141C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094324
chr17:55094485 C
C
 A
A
 159 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(156): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 162 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(159): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+13302C>A
c.1489+13302C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094485
chr17:55094550 C
C
 T
T
 1 a0001c0001t0097g0222
a0001c0001t0097g0222
 1 NA19006.hp2
NA19006.hp2
 intron_variant MODIFIER c.1489+13367C>T
c.1489+13367C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094550
chr17:55094551 G
G
 A
A
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1489+13368G>A
c.1489+13368G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094551
chr17:55094604 C
C
 G
G
 7 a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
others(4): Show 
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0009c0008t0021g0267
 7 HG01081.hp2
HG02257.hp1
HG02630.hp2
others(4): Show 
HG01081.hp2
HG02257.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG03540.hp2
NA19043.hp2
 intron_variant MODIFIER c.1489+13421C>G
c.1489+13421C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094604
chr17:55094624 G
G
 A
A
 1 a0001c0001t0064g0016
a0001c0001t0064g0016
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1489+13441G>A
c.1489+13441G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094624
chr17:55094641 T
T
 C
C
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1489+13458T>C
c.1489+13458T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094641
chr17:55094748 G
G
 A
A
 165 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(162): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 168 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(165): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+13565G>A
c.1489+13565G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094748
chr17:55094880 A
A
 G
G
 8 a0001c0002t0005g0031
a0001c0002t0005g0088
a0001c0002t0005g0091
others(5): Show 
a0001c0002t0005g0031
a0001c0002t0005g0088
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0096
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0113g0087
 8 HG00738.hp1
HG01106.hp2
HG02148.hp2
others(5): Show 
HG00738.hp1
HG01106.hp2
HG02148.hp2
HG02683.hp2
HG03490.hp2
HG03688.hp1
HG03704.hp2
NA20905.hp2
 intron_variant MODIFIER c.1489+13697A>G
c.1489+13697A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55094880
chr17:55095029 A
A
 G
G
 74 a0001c0001t0114g0026
a0001c0002t0001g0094
a0001c0002t0001g0106
others(71): Show 
a0001c0001t0114g0026
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 76 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(73): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+13846A>G
c.1489+13846A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095029
chr17:55095390 G
G
 A
A
 1 a0001c0001t0018g0226
a0001c0001t0018g0226
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.1489+14207G>A
c.1489+14207G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095390
chr17:55095510 T
T
 C
C
 105 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(102): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 106 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(103): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+14327T>C
c.1489+14327T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095510
chr17:55095607 G
G
 C
C
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+14424G>C
c.1489+14424G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095607
chr17:55095656 A
A
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1489+14473A>G
c.1489+14473A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095656
chr17:55095685 A
A
 G
G
 165 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(162): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 168 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(165): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+14502A>G
c.1489+14502A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095685
chr17:55095839 A
A
 G
G
 1 a0001c0002t0039g0037
a0001c0002t0039g0037
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1489+14656A>G
c.1489+14656A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095839
chr17:55095865 C
C
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1489+14682C>A
c.1489+14682C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095865
chr17:55095895 A
A
 G
G
 1 a0001c0001t0003g0274
a0001c0001t0003g0274
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1489+14712A>G
c.1489+14712A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095895
chr17:55095940 A
A
 T
T
 1 a0001c0002t0005g0099
a0001c0002t0005g0099
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1489+14757A>T
c.1489+14757A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095940
chr17:55095983 T
T
 C
C
 1 a0001c0001t0010g0270
a0001c0001t0010g0270
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1489+14800T>C
c.1489+14800T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55095983
chr17:55096198 C
C
 T
T
 1 a0001c0001t0064g0016
a0001c0001t0064g0016
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1489+15015C>T
c.1489+15015C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55096198
chr17:55096312 C
C
 T
T
 74 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(71): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 75 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(72): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+15129C>T
c.1489+15129C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55096312
chr17:55096606 A
A
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+15423A>T
c.1489+15423A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55096606
chr17:55096612 CT
CT
 C
C
 6 a0001c0001t0004g0241
a0001c0001t0008g0359
a0001c0001t0087g0117
others(3): Show 
a0001c0001t0004g0241
a0001c0001t0008g0359
a0001c0001t0087g0117
a0001c0001t0096g0062
a0001c0002t0002g0041
a0001c0012t0100g0275
 6 HG02572.hp2
HG02976.hp1
HG03453.hp1
others(3): Show 
HG02572.hp2
HG02976.hp1
HG03453.hp1
HG06807.hp2
NA18984.hp1
NA18992.hp2
 intron_variant MODIFIER c.1489+15443delT
c.1489+15443delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55096612
chr17:55096712 A
A
 G
G
 1 a0001c0002t0002g0043
a0001c0002t0002g0043
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1489+15529A>G
c.1489+15529A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55096712
chr17:55096722 G
G
 C
C
 4 a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
others(1): Show 
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0104g0077
 4 HG00280.hp1
HG01123.hp1
HG01169.hp1
others(1): Show 
HG00280.hp1
HG01123.hp1
HG01169.hp1
HG01517.hp1
 intron_variant MODIFIER c.1489+15539G>C
c.1489+15539G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55096722
chr17:55096747 C
C
 G
G
 5 a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
others(2): Show 
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
 5 NA18993.hp1
NA19005.hp1
NA19007.hp2
others(2): Show 
NA18993.hp1
NA19005.hp1
NA19007.hp2
NA19056.hp2
NA19085.hp1
 intron_variant MODIFIER c.1489+15564C>G
c.1489+15564C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55096747
chr17:55096810 C
C
 T
T
 98 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(95): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0009t0003g0297
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 99 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(96): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18968.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+15627C>T
c.1489+15627C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55096810
chr17:55096974 G
G
 T
T
 1 a0001c0002t0002g0044
a0001c0002t0002g0044
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1489+15791G>T
c.1489+15791G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55096974
chr17:55097073 A
A
 T
T
 165 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(162): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 168 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(165): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+15890A>T
c.1489+15890A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097073
chr17:55097177 A
A
 AT
AT
 329 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(326): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 333 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(330): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
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
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+15995dupT
c.1489+15995dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55097177
chr17:55097197 A
A
 G
G
 1 a0001c0001t0012g0149
a0001c0001t0012g0149
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1489+16014A>G
c.1489+16014A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097197
chr17:55097366 A
A
 G
G
 159 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(156): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0062g0246
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0002c0003t0006g0144
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 162 HG00099.hp2
HG00423.hp1
HG00438.hp1
others(159): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+16183A>G
c.1489+16183A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097366
chr17:55097385 C
C
 T
T
 5 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(2): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0002t0001g0094
 5 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(2): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18993.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+16202C>T
c.1489+16202C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097385
chr17:55097395 G
G
 C
C
 18 a0001c0001t0001g0243
a0001c0001t0004g0241
a0001c0001t0004g0245
others(15): Show 
a0001c0001t0001g0243
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 18 HG00438.hp2
HG02027.hp2
HG02080.hp2
others(15): Show 
HG00438.hp2
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19091.hp2
 intron_variant MODIFIER c.1489+16212G>C
c.1489+16212G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097395
chr17:55097401 T
T
 C
C
 3 a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
 3 HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
 intron_variant MODIFIER c.1489+16218T>C
c.1489+16218T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097401
chr17:55097425 G
G
 A
A
 1 a0001c0001t0008g0340
a0001c0001t0008g0340
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1489+16242G>A
c.1489+16242G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097425
chr17:55097429 C
C
 T
T
 1 a0001c0001t0008g0340
a0001c0001t0008g0340
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1489+16246C>T
c.1489+16246C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097429
chr17:55097430 A
A
 G
G
 1 a0001c0001t0008g0340
a0001c0001t0008g0340
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1489+16247A>G
c.1489+16247A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097430
chr17:55097435 G
G
 A
A
 3 a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0075g0271
 3 HG02559.hp2
HG02965.hp2
HG03098.hp2
HG02559.hp2
HG02965.hp2
HG03098.hp2
 intron_variant MODIFIER c.1489+16252G>A
c.1489+16252G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097435
chr17:55097439 G
G
 A
A
 2 a0001c0001t0010g0270
a0001c0001t0040g0335
a0001c0001t0010g0270
a0001c0001t0040g0335
 2 HG01175.hp1
HG02683.hp1
HG01175.hp1
HG02683.hp1
 intron_variant MODIFIER c.1489+16256G>A
c.1489+16256G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097439
chr17:55097474 T
T
 C
C
 5 a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
others(2): Show 
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
 5 NA18993.hp1
NA19005.hp1
NA19007.hp2
others(2): Show 
NA18993.hp1
NA19005.hp1
NA19007.hp2
NA19056.hp2
NA19085.hp1
 intron_variant MODIFIER c.1489+16291T>C
c.1489+16291T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097474
chr17:55097478 A
A
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1489+16295A>G
c.1489+16295A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097478
chr17:55097479 C
C
 T
T
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1489+16296C>T
c.1489+16296C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097479
chr17:55097490 C
C
 T
T
 65 a0001c0001t0001g0084
a0001c0001t0001g0188
a0001c0001t0001g0189
others(62): Show 
a0001c0001t0001g0084
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0022g0330
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0035g0167
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0002t0125g0042
a0001c0009t0003g0297
a0001c0012t0100g0275
a0007c0010t0003g0298
 65 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(62): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02132.hp2
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02572.hp2
HG02602.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02976.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18961.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp1
NA19002.hp1
NA19006.hp1
NA19009.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp1
NA20905.hp1
 intron_variant MODIFIER c.1489+16307C>T
c.1489+16307C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097490
chr17:55097491 G
G
 A
A
 1 a0001c0001t0034g0256
a0001c0001t0034g0256
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.1489+16308G>A
c.1489+16308G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097491
chr17:55097538 C
C
 T
T
 8 a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
others(5): Show 
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0064g0016
a0001c0001t0090g0012
 8 HG02257.hp2
HG02809.hp2
HG02922.hp1
others(5): Show 
HG02257.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.1489+16355C>T
c.1489+16355C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097538
chr17:55097545 A
A
 C
C
 1 a0001c0001t0063g0040
a0001c0001t0063g0040
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1489+16362A>C
c.1489+16362A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097545
chr17:55097546 T
T
 C
C
 1 a0001c0001t0063g0040
a0001c0001t0063g0040
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1489+16363T>C
c.1489+16363T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097546
chr17:55097578 G
G
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1489+16395G>C
c.1489+16395G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097578
chr17:55097580 A
A
 G
G
 1 a0001c0001t0003g0280
a0001c0001t0003g0280
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1489+16397A>G
c.1489+16397A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097580
chr17:55097587 C
C
 T
T
 2 a0001c0001t0003g0280
a0001c0002t0005g0076
a0001c0001t0003g0280
a0001c0002t0005g0076
 2 HG00642.hp2
HG01433.hp2
HG00642.hp2
HG01433.hp2
 intron_variant MODIFIER c.1489+16404C>T
c.1489+16404C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097587
chr17:55097594 C
C
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1489+16411C>T
c.1489+16411C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097594
chr17:55097605 A
A
 G
G
 238 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(235): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
 242 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(239): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+16422A>G
c.1489+16422A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097605
chr17:55097625 T
T
 C
C
 1 a0002c0003t0006g0003
a0002c0003t0006g0003
 2 HG01168.hp2
HG01169.hp2
HG01168.hp2
HG01169.hp2
 intron_variant MODIFIER c.1489+16442T>C
c.1489+16442T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097625
chr17:55097662 C
C
 CA
CA
 82 a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
others(79): Show 
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0209
a0001c0001t0008g0349
a0001c0001t0073g0259
a0001c0001t0114g0026
a0001c0001t0129g0161
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 84 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(81): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01517.hp1
HG01943.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19006.hp1
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+16492dupA
c.1489+16492dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55097662
chr17:55097662 CA
CA
 C
C
 23 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(20): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 23 HG00438.hp2
HG00673.hp1
HG02027.hp2
others(20): Show 
HG00438.hp2
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1489+16492delA
c.1489+16492delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55097662
chr17:55097795 C
C
 T
T
 1 a0005c0015t0011g0023
a0005c0015t0011g0023
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.1489+16612C>T
c.1489+16612C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097795
chr17:55097906 T
T
 C
C
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+16723T>C
c.1489+16723T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55097906
chr17:55098141 T
T
 A
A
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1489+16958T>A
c.1489+16958T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098141
chr17:55098172 G
G
 A
A
 80 a0001c0001t0073g0259
a0001c0001t0114g0026
a0001c0001t0115g0028
others(77): Show 
a0001c0001t0073g0259
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 82 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(79): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+16989G>A
c.1489+16989G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098172
chr17:55098341 G
G
 A
A
 81 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0114g0026
others(78): Show 
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+17158G>A
c.1489+17158G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098341
chr17:55098453 G
G
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1489+17270G>A
c.1489+17270G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098453
chr17:55098650 G
G
 A
A
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+17467G>A
c.1489+17467G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098650
chr17:55098662 C
C
 G
G
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+17479C>G
c.1489+17479C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098662
chr17:55098676 C
C
 T
T
 4 a0001c0002t0005g0088
a0001c0002t0005g0091
a0001c0002t0005g0096
others(1): Show 
a0001c0002t0005g0088
a0001c0002t0005g0091
a0001c0002t0005g0096
a0001c0002t0113g0087
 4 HG00738.hp1
HG03490.hp2
HG03688.hp1
others(1): Show 
HG00738.hp1
HG03490.hp2
HG03688.hp1
NA20905.hp2
 intron_variant MODIFIER c.1489+17493C>T
c.1489+17493C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098676
chr17:55098726 A
A
 G
G
 2 a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0115g0028
a0001c0001t0123g0029
 2 HG02145.hp2
HG03130.hp1
HG02145.hp2
HG03130.hp1
 intron_variant MODIFIER c.1489+17543A>G
c.1489+17543A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098726
chr17:55098850 G
G
 A
A
 330 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(327): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 334 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(331): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
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.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+17667G>A
c.1489+17667G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55098850
chr17:55099119 G
G
 T
T
 81 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0114g0026
others(78): Show 
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 83 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(80): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+17936G>T
c.1489+17936G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55099119
chr17:55099178 G
G
 C
C
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+17995G>C
c.1489+17995G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55099178
chr17:55099182 C
C
 T
T
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1489+17999C>T
c.1489+17999C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55099182
chr17:55099204 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+18021A>G
c.1489+18021A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55099204
chr17:55099508 T
T
 C
C
 2 a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0005t0005g0024
a0001c0005t0005g0025
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.1489+18325T>C
c.1489+18325T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55099508
chr17:55099671 A
A
 C
C
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+18488A>C
c.1489+18488A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55099671
chr17:55099916 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1489+18733G>A
c.1489+18733G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55099916
chr17:55100148 C
C
 T
T
 162 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(159): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 165 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(162): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+18965C>T
c.1489+18965C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100148
chr17:55100166 C
C
 G
G
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1489+18983C>G
c.1489+18983C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100166
chr17:55100206 T
T
 C
C
 313 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(310): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 317 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(314): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+19023T>C
c.1489+19023T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100206
chr17:55100221 A
A
 G
G
 4 a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
others(1): Show 
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0104g0077
 4 HG00280.hp1
HG01123.hp1
HG01169.hp1
others(1): Show 
HG00280.hp1
HG01123.hp1
HG01169.hp1
HG01517.hp1
 intron_variant MODIFIER c.1489+19038A>G
c.1489+19038A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100221
chr17:55100380 G
G
 A
A
 1 a0001c0001t0057g0317
a0001c0001t0057g0317
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.1489+19197G>A
c.1489+19197G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100380
chr17:55100416 G
G
 A
A
 1 a0001c0001t0009g0110
a0001c0001t0009g0110
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1489+19233G>A
c.1489+19233G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100416
chr17:55100538 T
T
 C
C
 157 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(154): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 160 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(157): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+19355T>C
c.1489+19355T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100538
chr17:55100825 T
T
 C
C
 1 a0001c0001t0014g0290
a0001c0001t0014g0290
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.1489+19642T>C
c.1489+19642T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100825
chr17:55100922 T
T
 C
C
 162 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(159): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 165 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(162): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+19739T>C
c.1489+19739T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100922
chr17:55100980 A
A
 G
G
 163 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(160): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 166 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(163): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+19797A>G
c.1489+19797A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55100980
chr17:55101425 C
C
 T
T
 1 a0001c0001t0003g0274
a0001c0001t0003g0274
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1489+20242C>T
c.1489+20242C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55101425
chr17:55101467 A
A
 C
C
 2 a0001c0001t0001g0171
a0001c0001t0001g0203
a0001c0001t0001g0171
a0001c0001t0001g0203
 2 HG00438.hp1
HG02155.hp1
HG00438.hp1
HG02155.hp1
 intron_variant MODIFIER c.1489+20284A>C
c.1489+20284A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55101467
chr17:55101565 A
A
 T
T
 1 a0001c0002t0102g0056
a0001c0002t0102g0056
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1489+20382A>T
c.1489+20382A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55101565
chr17:55101711 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+20528A>G
c.1489+20528A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55101711
chr17:55101975 C
C
 CTT
CTT
 337 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(334): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 341 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(338): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
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.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+20792_1489+20
others(8): Show 
c.1489+20792_1489+20793insTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55101975
chr17:55102105 G
G
 A
A
 2 a0001c0001t0004g0245
a0001c0001t0004g0250
a0001c0001t0004g0245
a0001c0001t0004g0250
 2 HG02080.hp2
HG02083.hp1
HG02080.hp2
HG02083.hp1
 intron_variant MODIFIER c.1489+20922G>A
c.1489+20922G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55102105
chr17:55102210 G
G
 C
C
 7 a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
others(4): Show 
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0009c0008t0021g0267
 7 HG01081.hp2
HG02257.hp1
HG02630.hp2
others(4): Show 
HG01081.hp2
HG02257.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG03540.hp2
NA19043.hp2
 intron_variant MODIFIER c.1489+21027G>C
c.1489+21027G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55102210
chr17:55102339 G
G
 A
A
 1 a0001c0001t0007g0214
a0001c0001t0007g0214
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.1489+21156G>A
c.1489+21156G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55102339
chr17:55102558 G
G
 C
C
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+21375G>C
c.1489+21375G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55102558
chr17:55102785 T
T
 C
C
 1 a0003c0004t0015g0279
a0003c0004t0015g0279
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1489+21602T>C
c.1489+21602T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55102785
chr17:55102861 A
A
 G
G
 1 a0007c0010t0003g0298
a0007c0010t0003g0298
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1489+21678A>G
c.1489+21678A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55102861
chr17:55102968 G
G
 A
A
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+21785G>A
c.1489+21785G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55102968
chr17:55103010 G
G
 T
T
 2 a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0032g0227
a0001c0001t0032g0229
 2 HG02647.hp2
HG02818.hp1
HG02647.hp2
HG02818.hp1
 intron_variant MODIFIER c.1489+21827G>T
c.1489+21827G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103010
chr17:55103124 C
C
 G
G
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.1489+21941C>G
c.1489+21941C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103124
chr17:55103256 G
G
 T
T
 1 a0001c0001t0025g0007
a0001c0001t0025g0007
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1489+22073G>T
c.1489+22073G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103256
chr17:55103386 G
G
 A
A
 1 a0001c0001t0004g0236
a0001c0001t0004g0236
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.1489+22203G>A
c.1489+22203G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103386
chr17:55103391 C
C
 T
T
 2 a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0039g0032
a0001c0002t0039g0037
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 intron_variant MODIFIER c.1489+22208C>T
c.1489+22208C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103391
chr17:55103513 T
T
 G
G
 1 a0002c0003t0011g0118
a0002c0003t0011g0118
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1489+22330T>G
c.1489+22330T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103513
chr17:55103566 T
T
 C
C
 1 a0001c0002t0002g0068
a0001c0002t0002g0068
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.1489+22383T>C
c.1489+22383T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103566
chr17:55103579 G
G
 GTTTT
GTTTT
 154 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(151): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0006c0013t0001g0182
 157 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(154): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+22403_1489+22
others(10): Show 
c.1489+22403_1489+22406dupTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55103579
chr17:55103642 A
A
 C
C
 1 a0001c0001t0005g0193
a0001c0001t0005g0193
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.1489+22459A>C
c.1489+22459A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103642
chr17:55103712 G
G
 C
C
 1 a0001c0001t0018g0224
a0001c0001t0018g0224
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.1489+22529G>C
c.1489+22529G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103712
chr17:55103765 C
C
 A
A
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.1489+22582C>A
c.1489+22582C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103765
chr17:55103911 C
C
 T
T
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+22728C>T
c.1489+22728C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103911
chr17:55103936 A
A
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1489+22753A>T
c.1489+22753A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55103936
chr17:55104033 C
C
 T
T
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1489+22850C>T
c.1489+22850C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104033
chr17:55104039 G
G
 A
A
 21 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(18): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 21 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(18): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+22856G>A
c.1489+22856G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104039
chr17:55104161 A
A
 T
T
 1 a0002c0003t0011g0118
a0002c0003t0011g0118
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1489+22978A>T
c.1489+22978A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104161
chr17:55104185 G
G
 A
A
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+23002G>A
c.1489+23002G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104185
chr17:55104356 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+23173A>G
c.1489+23173A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104356
chr17:55104371 C
C
 G
G
 2 a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0037g0047
a0001c0002t0037g0048
 2 NA18957.hp1
NA19079.hp1
NA18957.hp1
NA19079.hp1
 intron_variant MODIFIER c.1489+23188C>G
c.1489+23188C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104371
chr17:55104520 C
C
 T
T
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1489+23337C>T
c.1489+23337C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104520
chr17:55104590 G
G
 T
T
 84 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(81): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 85 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(82): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+23407G>T
c.1489+23407G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104590
chr17:55104605 T
T
 C
C
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+23422T>C
c.1489+23422T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104605
chr17:55104618 G
G
 A
A
 24 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
others(21): Show 
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 24 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(21): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+23435G>A
c.1489+23435G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104618
chr17:55104620 A
A
 C
C
 1 a0001c0002t0126g0072
a0001c0002t0126g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1489+23437A>C
c.1489+23437A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104620
chr17:55104685 A
A
 T
T
 337 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(334): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 341 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(338): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
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.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+23502A>T
c.1489+23502A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104685
chr17:55104844 G
G
 A
A
 1 a0001c0001t0047g0366
a0001c0001t0047g0366
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1489+23661G>A
c.1489+23661G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55104844
chr17:55105065 A
A
 G
G
 160 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(157): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 163 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(160): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+23882A>G
c.1489+23882A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105065
chr17:55105084 C
C
 T
T
 1 a0001c0001t0049g0310
a0001c0001t0049g0310
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.1489+23901C>T
c.1489+23901C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105084
chr17:55105085 G
G
 A
A
 163 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(160): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 166 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(163): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+23902G>A
c.1489+23902G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105085
chr17:55105217 A
A
 G
G
 337 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(334): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 341 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(338): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
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.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+24034A>G
c.1489+24034A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105217
chr17:55105349 C
C
 T
T
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 37 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1489+24166C>T
c.1489+24166C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105349
chr17:55105385 G
G
 A
A
 86 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(83): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0011t0001g0156
a0006c0013t0001g0182
 87 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(84): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02273.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+24202G>A
c.1489+24202G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105385
chr17:55105420 T
T
 C
C
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1489+24237T>C
c.1489+24237T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105420
chr17:55105468 C
C
 CT
CT
 8 a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0095g0329
others(5): Show 
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0095g0329
a0001c0001t0096g0062
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 8 HG02486.hp1
HG02615.hp1
HG02630.hp1
others(5): Show 
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03471.hp2
 intron_variant MODIFIER c.1489+24302dupT
c.1489+24302dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55105468
chr17:55105470 T
T
 TTTC
TTTC
 65 a0001c0001t0007g0212
a0001c0002t0001g0106
a0001c0002t0002g0002
others(62): Show 
a0001c0001t0007g0212
a0001c0002t0001g0106
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 66 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(63): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1489+24289_1489+24
others(9): Show 
c.1489+24289_1489+24290insCTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55105470
chr17:55105471 T
T
 TTC
TTC
 86 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(83): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0011t0001g0156
a0006c0013t0001g0182
 87 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(84): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02273.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+24289_1489+24
others(8): Show 
c.1489+24289_1489+24290insCT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55105471
chr17:55105528 C
C
 T
T
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1489+24345C>T
c.1489+24345C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105528
chr17:55105560 C
C
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+24377C>A
c.1489+24377C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105560
chr17:55105591 T
T
 A
A
 1 a0001c0001t0009g0110
a0001c0001t0009g0110
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1489+24408T>A
c.1489+24408T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105591
chr17:55105628 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+24445C>T
c.1489+24445C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105628
chr17:55105638 A
A
 AT
AT
 28 a0001c0001t0007g0081
a0001c0001t0009g0017
a0001c0001t0009g0018
others(25): Show 
a0001c0001t0007g0081
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0099g0021
a0003c0006t0094g0022
a0004c0007t0020g0010
a0008c0014t0133g0008
 28 HG02257.hp2
HG02486.hp1
HG02559.hp2
others(25): Show 
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp2
HG06807.hp1
NA18522.hp2
NA18963.hp1
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1489+24468dupT
c.1489+24468dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55105638
chr17:55105638 AT
AT
 A
A
 31 a0001c0001t0001g0178
a0001c0001t0001g0243
a0001c0001t0004g0236
others(28): Show 
a0001c0001t0001g0178
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0214
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
a0001c0001t0119g0148
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 31 HG00438.hp2
HG00673.hp1
HG02027.hp2
others(28): Show 
HG00438.hp2
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02602.hp2
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18975.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.1489+24468delT
c.1489+24468delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55105638
chr17:55105668 C
C
 T
T
 86 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(83): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0011t0001g0156
a0006c0013t0001g0182
 87 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(84): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02273.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG03130.hp1
HG03490.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18993.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+24485C>T
c.1489+24485C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105668
chr17:55105706 C
C
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1489+24523C>T
c.1489+24523C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105706
chr17:55105707 G
G
 A
A
 1 a0001c0001t0004g0284
a0001c0001t0004g0284
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1489+24524G>A
c.1489+24524G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105707
chr17:55105718 C
C
 T
T
 314 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(311): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 318 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(315): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+24535C>T
c.1489+24535C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105718
chr17:55105767 C
C
 T
T
 2 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0073g0259
a0001c0001t0099g0021
 2 HG03471.hp1
HG04228.hp2
HG03471.hp1
HG04228.hp2
 intron_variant MODIFIER c.1489+24584C>T
c.1489+24584C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105767
chr17:55105819 A
A
 C
C
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1489+24636A>C
c.1489+24636A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105819
chr17:55105838 A
A
 C
C
 337 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(334): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0001g0243
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 341 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(338): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
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.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.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
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
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
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+24655A>C
c.1489+24655A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55105838
chr17:55106284 CT
CT
 C
C
 8 a0001c0001t0099g0021
a0001c0001t0115g0028
a0002c0003t0089g0143
others(5): Show 
a0001c0001t0099g0021
a0001c0001t0115g0028
a0002c0003t0089g0143
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 8 HG02145.hp2
HG02486.hp1
HG02615.hp1
others(5): Show 
HG02145.hp2
HG02486.hp1
HG02615.hp1
HG02818.hp2
HG02922.hp2
HG03471.hp1
HG03579.hp2
HG04115.hp1
 intron_variant MODIFIER c.1489+25114delT
c.1489+25114delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55106284
chr17:55106298 A
A
 G
G
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+25115A>G
c.1489+25115A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55106298
chr17:55106393 A
A
 G
G
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+25210A>G
c.1489+25210A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55106393
chr17:55106540 A
A
 G
G
 1 a0001c0001t0081g0108
a0001c0001t0081g0108
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1489+25357A>G
c.1489+25357A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55106540
chr17:55106599 C
C
 T
T
 2 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0073g0259
a0001c0001t0099g0021
 2 HG03471.hp1
HG04228.hp2
HG03471.hp1
HG04228.hp2
 intron_variant MODIFIER c.1489+25416C>T
c.1489+25416C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55106599
chr17:55106733 TG
TG
 T
T
 4 a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
others(1): Show 
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0104g0077
 4 HG00280.hp1
HG01123.hp1
HG01169.hp1
others(1): Show 
HG00280.hp1
HG01123.hp1
HG01169.hp1
HG01517.hp1
 intron_variant MODIFIER c.1489+25552delG
c.1489+25552delG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55106733
chr17:55106748 G
G
 T
T
 9 a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
others(6): Show 
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0022g0358
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0042g0355
a0001c0001t0050g0360
 9 HG02109.hp1
HG02451.hp1
HG02615.hp2
others(6): Show 
HG02109.hp1
HG02451.hp1
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.1489+25565G>T
c.1489+25565G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55106748
chr17:55107072 C
C
 T
T
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1489+25889C>T
c.1489+25889C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107072
chr17:55107506 G
G
 C
C
 1 a0001c0002t0005g0103
a0001c0002t0005g0103
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1489+26323G>C
c.1489+26323G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107506
chr17:55107560 C
C
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1489+26377C>G
c.1489+26377C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107560
chr17:55107588 T
T
 C
C
 270 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(267): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0073g0259
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 274 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(271): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+26405T>C
c.1489+26405T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107588
chr17:55107745 G
G
 A
A
 2 a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0073g0259
a0001c0001t0082g0334
 2 HG04228.hp2
NA18941.hp1
HG04228.hp2
NA18941.hp1
 intron_variant MODIFIER c.1489+26562G>A
c.1489+26562G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107745
chr17:55107838 G
G
 A
A
 1 a0001c0002t0005g0095
a0001c0002t0005g0095
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1489+26655G>A
c.1489+26655G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107838
chr17:55107851 G
G
 C
C
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+26668G>C
c.1489+26668G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107851
chr17:55107864 A
A
 G
G
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+26681A>G
c.1489+26681A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107864
chr17:55107906 G
G
 A
A
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+26723G>A
c.1489+26723G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55107906
chr17:55108328 T
T
 C
C
 1 a0001c0001t0012g0149
a0001c0001t0012g0149
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1489+27145T>C
c.1489+27145T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108328
chr17:55108346 C
C
 T
T
 2 a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0037g0047
a0001c0002t0037g0048
 2 NA18957.hp1
NA19079.hp1
NA18957.hp1
NA19079.hp1
 intron_variant MODIFIER c.1489+27163C>T
c.1489+27163C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108346
chr17:55108347 G
G
 A
A
 9 a0002c0003t0085g0133
a0003c0004t0013g0260
a0003c0004t0013g0262
others(6): Show 
a0002c0003t0085g0133
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 9 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(6): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA18952.hp1
NA19043.hp1
 intron_variant MODIFIER c.1489+27164G>A
c.1489+27164G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108347
chr17:55108373 C
C
 A
A
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1489+27190C>A
c.1489+27190C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108373
chr17:55108442 T
T
 C
C
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+27259T>C
c.1489+27259T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108442
chr17:55108473 A
A
 G
G
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+27290A>G
c.1489+27290A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108473
chr17:55108474 C
C
 G
G
 1 a0001c0001t0009g0017
a0001c0001t0009g0017
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1489+27291C>G
c.1489+27291C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108474
chr17:55108619 C
C
 A
A
 1 a0001c0001t0046g0281
a0001c0001t0046g0281
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1489+27436C>A
c.1489+27436C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108619
chr17:55108624 C
C
 T
T
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1489+27441C>T
c.1489+27441C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108624
chr17:55108696 C
C
 T
T
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1489+27513C>T
c.1489+27513C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108696
chr17:55108700 C
C
 G
G
 164 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0195
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0123g0029
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0129g0161
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0006c0013t0001g0182
a0008c0014t0133g0008
 167 HG00099.hp1
HG00280.hp1
HG00423.hp1
others(164): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18969.hp1
NA18970.hp2
NA18975.hp1
NA18977.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18992.hp1
NA18993.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1489+27517C>G
c.1489+27517C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108700
chr17:55108764 T
T
 A
A
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.1489+27581T>A
c.1489+27581T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108764
chr17:55108820 G
G
 A
A
 4 a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
others(1): Show 
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0104g0077
 4 HG00280.hp1
HG01123.hp1
HG01169.hp1
others(1): Show 
HG00280.hp1
HG01123.hp1
HG01169.hp1
HG01517.hp1
 intron_variant MODIFIER c.1489+27637G>A
c.1489+27637G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108820
chr17:55108957 C
C
 T
T
 77 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(74): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 78 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(75): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+27774C>T
c.1489+27774C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55108957
chr17:55109041 A
A
 G
G
 77 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(74): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 78 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(75): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+27858A>G
c.1489+27858A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55109041
chr17:55109176 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1489+27993G>A
c.1489+27993G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55109176
chr17:55109440 G
G
 T
T
 1 a0001c0002t0002g0090
a0001c0002t0002g0090
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1489+28257G>T
c.1489+28257G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55109440
chr17:55109624 C
C
 CT
CT
 8 a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0191
others(5): Show 
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0191
a0001c0001t0001g0208
a0001c0001t0073g0259
a0001c0001t0122g0150
a0001c0001t0127g0215
a0001c0002t0102g0056
 8 HG02027.hp1
HG03942.hp2
HG04228.hp2
others(5): Show 
HG02027.hp1
HG03942.hp2
HG04228.hp2
NA18970.hp2
NA18989.hp2
NA19000.hp1
NA19007.hp1
NA19011.hp1
 intron_variant MODIFIER c.1489+28464dupT
c.1489+28464dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55109624
chr17:55109624 CTT
CTT
 C
C
 102 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0004g0236
others(99): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0022g0330
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0048g0346
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 103 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(100): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18522.hp2
NA18612.hp2
NA18942.hp1
NA18946.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18999.hp1
NA19004.hp1
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.1489+28463_1489+28
others(8): Show 
c.1489+28463_1489+28464delTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55109624
chr17:55109624 CTTT
CTTT
 C
C
 97 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(94): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0338
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0019g0015
a0001c0001t0022g0358
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0081g0108
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 98 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(95): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18945.hp1
NA18953.hp2
NA18964.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19062.hp1
NA19065.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1489+28462_1489+28
others(9): Show 
c.1489+28462_1489+28464delTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55109624
chr17:55109645 T
T
 C
C
 7 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(4): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0031g0261
a0003c0004t0131g0264
 7 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(4): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.1489+28462T>C
c.1489+28462T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55109645
chr17:55109737 C
C
 T
T
 1 a0003c0004t0066g0362
a0003c0004t0066g0362
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1489+28554C>T
c.1489+28554C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55109737
chr17:55109755 G
G
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1489+28572G>T
c.1489+28572G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55109755
chr17:55109820 G
G
 A
A
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 37 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1489+28637G>A
c.1489+28637G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55109820
chr17:55109939 G
G
 C
C
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1489+28756G>C
c.1489+28756G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55109939
chr17:55110040 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1489+28857G>A
c.1489+28857G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110040
chr17:55110135 C
C
 T
T
 101 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(98): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 102 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+28952C>T
c.1489+28952C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110135
chr17:55110192 ACT
ACT
 A
A
 6 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0081g0108
 6 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(3): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.1489+29012_1489+29
others(8): Show 
c.1489+29012_1489+29013delCT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55110192
chr17:55110232 A
A
 G
G
 1 a0003c0004t0066g0362
a0003c0004t0066g0362
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1489+29049A>G
c.1489+29049A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110232
chr17:55110238 A
A
 G
G
 1 a0001c0001t0004g0251
a0001c0001t0004g0251
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.1489+29055A>G
c.1489+29055A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110238
chr17:55110311 G
G
 A
A
 1 a0001c0001t0007g0213
a0001c0001t0007g0213
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.1489+29128G>A
c.1489+29128G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110311
chr17:55110369 A
A
 T
T
 2 a0001c0001t0103g0157
a0001c0001t0117g0158
a0001c0001t0103g0157
a0001c0001t0117g0158
 2 HG02040.hp2
HG02083.hp2
HG02040.hp2
HG02083.hp2
 intron_variant MODIFIER c.1489+29186A>T
c.1489+29186A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110369
chr17:55110591 A
A
 G
G
 2 a0001c0001t0001g0006
a0001c0001t0001g0180
a0001c0001t0001g0006
a0001c0001t0001g0180
 3 NA18952.hp2
NA18969.hp1
NA19058.hp1
NA18952.hp2
NA18969.hp1
NA19058.hp1
 intron_variant MODIFIER c.1489+29408A>G
c.1489+29408A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110591
chr17:55110703 A
A
 G
G
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+29520A>G
c.1489+29520A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110703
chr17:55110919 C
C
 T
T
 209 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(206): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 212 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(209): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1489+29736C>T
c.1489+29736C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55110919
chr17:55111000 G
G
 A
A
 84 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(81): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 85 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(82): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1489+29817G>A
c.1489+29817G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111000
chr17:55111018 G
G
 A
A
 108 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(105): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 109 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(106): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1489+29835G>A
c.1489+29835G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111018
chr17:55111162 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1489+29979T>C
c.1489+29979T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111162
chr17:55111478 G
G
 A
A
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1490-29832G>A
c.1490-29832G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111478
chr17:55111532 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-29778G>A
c.1490-29778G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111532
chr17:55111556 T
T
 C
C
 211 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(208): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 214 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(211): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-29754T>C
c.1490-29754T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111556
chr17:55111637 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1490-29673G>A
c.1490-29673G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111637
chr17:55111810 C
C
 T
T
 1 a0001c0001t0001g0186
a0001c0001t0001g0186
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.1490-29500C>T
c.1490-29500C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111810
chr17:55111895 G
G
 GGTTT
GGTTT
 30 a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0207
others(27): Show 
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0218
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0121g0190
a0001c0001t0127g0215
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 30 HG00673.hp2
HG01243.hp1
HG01433.hp1
others(27): Show 
HG00673.hp2
HG01243.hp1
HG01433.hp1
HG02055.hp1
HG02109.hp2
HG02273.hp1
HG02622.hp1
HG02738.hp2
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18612.hp1
NA18941.hp1
NA18962.hp1
NA18963.hp2
NA18973.hp1
NA18989.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19056.hp1
NA19063.hp1
NA19079.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-29382_1490-29
others(10): Show 
c.1490-29382_1490-29379dupGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55111895
chr17:55111895 GGTTT
GGTTT
 G
G
 146 a0001c0001t0001g0159
a0001c0001t0001g0175
a0001c0001t0001g0199
others(143): Show 
a0001c0001t0001g0159
a0001c0001t0001g0175
a0001c0001t0001g0199
a0001c0001t0001g0204
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0309
a0001c0001t0003g0318
a0001c0001t0004g0253
a0001c0001t0008g0352
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0322
a0001c0001t0012g0228
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0358
a0001c0001t0024g0307
a0001c0001t0026g0311
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0046g0281
a0001c0001t0050g0360
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0114g0026
a0001c0001t0124g0177
a0001c0001t0134g0233
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0105g0092
a0001c0002t0108g0097
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0003c0006t0092g0113
a0003c0006t0094g0022
a0005c0015t0011g0023
a0009c0008t0021g0267
 149 HG00099.hp1
HG00280.hp1
HG00423.hp2
others(146): Show 
HG00099.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01934.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18964.hp2
NA18969.hp2
NA18970.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18980.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA19005.hp1
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19062.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19240.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1490-29382_1490-29
others(10): Show 
c.1490-29382_1490-29379delGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55111895
chr17:55111895 GGTTTGTT
others(1): Show 
GGTTTGTTT
 G
G
 18 a0001c0001t0073g0259
a0001c0001t0096g0062
a0001c0002t0002g0002
others(15): Show 
a0001c0001t0073g0259
a0001c0001t0096g0062
a0001c0002t0002g0002
a0001c0002t0002g0035
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0008g0038
a0001c0002t0104g0077
a0001c0002t0107g0045
a0001c0002t0112g0086
 19 HG00639.hp1
HG01169.hp1
HG02132.hp1
others(16): Show 
HG00639.hp1
HG01169.hp1
HG02132.hp1
HG02602.hp2
HG02976.hp1
HG03704.hp2
HG04228.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18982.hp2
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
 intron_variant MODIFIER c.1490-29386_1490-29
others(14): Show 
c.1490-29386_1490-29379delGTTTGTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55111895
chr17:55111957 C
C
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1490-29353C>T
c.1490-29353C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111957
chr17:55111995 A
A
 C
C
 108 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(105): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 109 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(106): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-29315A>C
c.1490-29315A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55111995
chr17:55112000 C
C
 T
T
 30 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(27): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 30 HG00438.hp2
HG00673.hp1
HG02027.hp2
others(27): Show 
HG00438.hp2
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19030.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-29310C>T
c.1490-29310C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55112000
chr17:55112043 A
A
 G
G
 1 a0001c0001t0064g0016
a0001c0001t0064g0016
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1490-29267A>G
c.1490-29267A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55112043
chr17:55112071 A
A
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1490-29239A>G
c.1490-29239A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55112071
chr17:55112090 CT
CT
 C
C
 208 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-29210delT
c.1490-29210delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55112090
chr17:55112109 G
G
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-29201G>A
c.1490-29201G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55112109
chr17:55112322 T
T
 G
G
 7 a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0018g0223
others(4): Show 
a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0091g0225
a0001c0001t0097g0222
 7 HG01109.hp1
HG03516.hp2
NA18951.hp2
others(4): Show 
HG01109.hp1
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-28988T>G
c.1490-28988T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55112322
chr17:55112384 T
T
 C
C
 1 a0001c0002t0002g0070
a0001c0002t0002g0070
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1490-28926T>C
c.1490-28926T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55112384
chr17:55112831 T
T
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-28479T>A
c.1490-28479T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55112831
chr17:55113065 A
A
 G
G
 214 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(211): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 217 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(214): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-28245A>G
c.1490-28245A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113065
chr17:55113082 C
C
 G
G
 2 a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0188
a0001c0001t0001g0189
 2 HG03490.hp1
HG03492.hp2
HG03490.hp1
HG03492.hp2
 intron_variant MODIFIER c.1490-28228C>G
c.1490-28228C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113082
chr17:55113217 C
C
 CCA
CCA
 15 a0001c0001t0001g0082
a0001c0001t0001g0186
a0001c0001t0001g0220
others(12): Show 
a0001c0001t0001g0082
a0001c0001t0001g0186
a0001c0001t0001g0220
a0001c0001t0003g0328
a0001c0001t0008g0340
a0001c0001t0045g0350
a0001c0001t0096g0062
a0001c0012t0100g0275
a0003c0004t0013g0263
a0003c0004t0015g0278
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0066g0362
a0003c0004t0077g0363
a0006c0013t0001g0182
 15 HG01081.hp2
HG01496.hp1
HG02055.hp1
others(12): Show 
HG01081.hp2
HG01496.hp1
HG02055.hp1
HG02080.hp1
HG02257.hp1
HG02572.hp2
HG02896.hp1
HG02976.hp1
HG03540.hp2
HG04184.hp1
NA18970.hp2
NA19057.hp1
NA19066.hp1
NA19090.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-28049_1490-28
others(8): Show 
c.1490-28049_1490-28048dupAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 C
C
 CCACA
CCACA
 14 a0001c0001t0001g0243
a0001c0001t0004g0238
a0001c0001t0004g0245
others(11): Show 
a0001c0001t0001g0243
a0001c0001t0004g0238
a0001c0001t0004g0245
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0095g0329
a0001c0002t0004g0085
 14 HG00673.hp1
HG02080.hp2
HG02083.hp1
others(11): Show 
HG00673.hp1
HG02080.hp2
HG02083.hp1
HG02602.hp2
HG02630.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18978.hp2
NA18981.hp1
NA18999.hp1
NA19011.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-28051_1490-28
others(10): Show 
c.1490-28051_1490-28048dupACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 C
C
 CCACACA
CCACACA
 3 a0001c0001t0004g0253
a0001c0001t0093g0237
a0001c0001t0099g0021
a0001c0001t0004g0253
a0001c0001t0093g0237
a0001c0001t0099g0021
 3 HG02027.hp2
HG03471.hp1
NA19083.hp2
HG02027.hp2
HG03471.hp1
NA19083.hp2
 intron_variant MODIFIER c.1490-28053_1490-28
others(12): Show 
c.1490-28053_1490-28048dupACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 C
C
 CCACACAC
others(1): Show 
CCACACACA
 4 a0001c0001t0004g0236
a0001c0001t0004g0240
a0001c0001t0031g0269
others(1): Show 
a0001c0001t0004g0236
a0001c0001t0004g0240
a0001c0001t0031g0269
a0001c0001t0132g0268
 4 HG02280.hp2
HG02965.hp1
NA19064.hp1
others(1): Show 
HG02280.hp2
HG02965.hp1
NA19064.hp1
NA19065.hp1
 intron_variant MODIFIER c.1490-28055_1490-28
others(14): Show 
c.1490-28055_1490-28048dupACACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 CCA
CCA
 C
C
 97 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0084
others(94): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0001g0084
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0235
a0001c0001t0002g0168
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0007g0081
a0001c0001t0007g0083
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0196
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0217
a0001c0001t0007g0348
a0001c0001t0008g0352
a0001c0001t0008g0359
a0001c0001t0022g0358
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0154
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0082g0334
a0001c0001t0098g0257
a0001c0001t0101g0005
a0001c0001t0103g0157
a0001c0001t0106g0176
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0117g0158
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0121g0190
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0127g0215
a0001c0001t0130g0027
a0001c0002t0001g0094
a0001c0002t0005g0076
a0001c0002t0005g0091
a0001c0002t0104g0077
a0001c0002t0126g0072
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0011t0001g0156
a0002c0003t0006g0144
a0002c0003t0011g0131
a0002c0003t0030g0128
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
 98 HG00099.hp1
HG00099.hp2
HG00423.hp1
others(95): Show 
HG00099.hp1
HG00099.hp2
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01517.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02273.hp1
HG02451.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03490.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03834.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18963.hp2
NA18964.hp1
NA18968.hp1
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18978.hp1
NA18980.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18989.hp2
NA18991.hp1
NA18993.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19064.hp2
NA19075.hp1
NA19079.hp2
NA19080.hp2
NA19082.hp1
NA19085.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1490-28049_1490-28
others(8): Show 
c.1490-28049_1490-28048delAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 CCACA
CCACA
 C
C
 58 a0001c0001t0001g0203
a0001c0001t0007g0179
a0001c0001t0007g0181
others(55): Show 
a0001c0001t0001g0203
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0008g0332
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0314
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0041g0293
a0001c0001t0074g0011
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0114g0026
a0001c0002t0002g0090
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0105
a0001c0002t0038g0073
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0105g0092
a0001c0002t0112g0086
a0001c0002t0113g0087
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
 60 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(57): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG01928.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp1
HG03669.hp1
HG03704.hp2
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp2
NA18948.hp1
NA18951.hp2
NA18973.hp2
NA19074.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1490-28051_1490-28
others(10): Show 
c.1490-28051_1490-28048delACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 CCACACA
CCACACA
 C
C
 34 a0001c0001t0001g0191
a0001c0001t0001g0200
a0001c0001t0009g0017
others(31): Show 
a0001c0001t0001g0191
a0001c0001t0001g0200
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0063g0040
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0090g0012
a0001c0001t0134g0233
a0001c0002t0002g0002
a0001c0002t0002g0039
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0110g0033
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0016g0130
a0008c0014t0133g0008
 35 HG01070.hp1
HG01071.hp1
HG01358.hp1
others(32): Show 
HG01070.hp1
HG01071.hp1
HG01358.hp1
HG02257.hp2
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03486.hp2
HG03516.hp1
HG03942.hp2
NA18522.hp2
NA18945.hp2
NA18970.hp1
NA18979.hp1
NA18982.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19030.hp1
NA19060.hp2
NA19063.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-28053_1490-28
others(12): Show 
c.1490-28053_1490-28048delACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 CCACACAC
others(1): Show 
CCACACACA
 C
C
 37 a0001c0001t0001g0219
a0001c0001t0129g0161
a0001c0002t0001g0106
others(34): Show 
a0001c0001t0001g0219
a0001c0001t0129g0161
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0079
a0001c0002t0102g0056
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0111g0046
a0001c0002t0125g0042
a0001c0002t0128g0057
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
 38 HG00621.hp2
HG01074.hp1
HG02027.hp1
others(35): Show 
HG00621.hp2
HG01074.hp1
HG02027.hp1
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02165.hp2
HG02572.hp1
HG02615.hp1
HG02922.hp2
HG03225.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.1490-28055_1490-28
others(14): Show 
c.1490-28055_1490-28048delACACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 CCACACAC
others(3): Show 
CCACACACACA
 C
C
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-28057_1490-28
others(16): Show 
c.1490-28057_1490-28048delACACACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113217 CCACACAC
others(9): Show 
CCACACACACACACACA
 C
C
 1 a0001c0001t0123g0029
a0001c0001t0123g0029
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1490-28063_1490-28
others(22): Show 
c.1490-28063_1490-28048delACACACACACACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55113217
chr17:55113263 G
G
 A
A
 6 a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
others(3): Show 
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0066g0362
a0003c0004t0077g0363
a0009c0008t0021g0267
 6 HG01081.hp2
HG02257.hp1
HG02630.hp2
others(3): Show 
HG01081.hp2
HG02257.hp1
HG02630.hp2
HG02896.hp1
HG03540.hp2
NA19043.hp2
 intron_variant MODIFIER c.1490-28047G>A
c.1490-28047G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113263
chr17:55113634 T
T
 C
C
 34 a0001c0001t0078g0234
a0001c0001t0134g0233
a0002c0003t0004g0122
others(31): Show 
a0001c0001t0078g0234
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 36 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(33): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-27676T>C
c.1490-27676T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113634
chr17:55113678 C
C
 G
G
 1 a0001c0001t0034g0256
a0001c0001t0034g0256
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.1490-27632C>G
c.1490-27632C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113678
chr17:55113722 T
T
 C
C
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-27588T>C
c.1490-27588T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113722
chr17:55113737 C
C
 T
T
 1 a0001c0002t0005g0091
a0001c0002t0005g0091
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1490-27573C>T
c.1490-27573C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113737
chr17:55113772 T
T
 C
C
 1 a0001c0001t0009g0112
a0001c0001t0009g0112
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.1490-27538T>C
c.1490-27538T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113772
chr17:55113804 T
T
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-27506T>A
c.1490-27506T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113804
chr17:55113915 C
C
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-27395C>G
c.1490-27395C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113915
chr17:55113995 A
A
 G
G
 214 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(211): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 217 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(214): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-27315A>G
c.1490-27315A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55113995
chr17:55114201 G
G
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-27109G>T
c.1490-27109G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114201
chr17:55114228 G
G
 T
T
 1 a0001c0001t0031g0269
a0001c0001t0031g0269
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1490-27082G>T
c.1490-27082G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114228
chr17:55114342 T
T
 C
C
 208 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-26968T>C
c.1490-26968T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114342
chr17:55114404 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-26906G>A
c.1490-26906G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114404
chr17:55114415 G
G
 T
T
 288 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(285): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0123g0029
a0001c0001t0130g0027
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 293 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(290): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.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
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1490-26895G>T
c.1490-26895G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114415
chr17:55114432 A
A
 G
G
 1 a0001c0002t0125g0042
a0001c0002t0125g0042
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.1490-26878A>G
c.1490-26878A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114432
chr17:55114591 A
A
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-26719A>T
c.1490-26719A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114591
chr17:55114777 A
A
 G
G
 1 a0003c0006t0092g0113
a0003c0006t0092g0113
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1490-26533A>G
c.1490-26533A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114777
chr17:55114870 C
C
 T
T
 32 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(29): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 34 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(31): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-26440C>T
c.1490-26440C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114870
chr17:55114939 T
T
 G
G
 1 a0001c0002t0107g0045
a0001c0002t0107g0045
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1490-26371T>G
c.1490-26371T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114939
chr17:55114947 C
C
 A
A
 1 a0001c0002t0113g0087
a0001c0002t0113g0087
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1490-26363C>A
c.1490-26363C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55114947
chr17:55115022 A
A
 G
G
 4 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(1): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0081g0108
 4 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(1): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
NA20300.hp2
 intron_variant MODIFIER c.1490-26288A>G
c.1490-26288A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115022
chr17:55115224 A
A
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1490-26086A>G
c.1490-26086A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115224
chr17:55115417 T
T
 C
C
 1 a0001c0001t0004g0238
a0001c0001t0004g0238
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1490-25893T>C
c.1490-25893T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115417
chr17:55115567 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.1490-25743A>G
c.1490-25743A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115567
chr17:55115585 T
T
 A
A
 94 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(91): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 96 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(93): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-25725T>A
c.1490-25725T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115585
chr17:55115592 T
T
 G
G
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1490-25718T>G
c.1490-25718T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115592
chr17:55115594 T
T
 C
C
 1 a0002c0003t0006g0140
a0002c0003t0006g0140
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.1490-25716T>C
c.1490-25716T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115594
chr17:55115600 A
A
 T
T
 2 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0073g0259
a0001c0001t0099g0021
 2 HG03471.hp1
HG04228.hp2
HG03471.hp1
HG04228.hp2
 intron_variant MODIFIER c.1490-25710A>T
c.1490-25710A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115600
chr17:55115820 A
A
 G
G
 214 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(211): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 217 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(214): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-25490A>G
c.1490-25490A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55115820
chr17:55116360 A
A
 G
G
 84 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(81): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 85 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(82): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1490-24950A>G
c.1490-24950A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116360
chr17:55116404 A
A
 G
G
 1 a0001c0001t0040g0335
a0001c0001t0040g0335
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1490-24906A>G
c.1490-24906A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116404
chr17:55116448 G
G
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-24862G>T
c.1490-24862G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116448
chr17:55116604 A
A
 G
G
 1 a0002c0003t0006g0119
a0002c0003t0006g0119
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1490-24706A>G
c.1490-24706A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116604
chr17:55116658 G
G
 GA
GA
 209 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(206): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 212 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(209): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-24652_1490-24
others(7): Show 
c.1490-24652_1490-24651insA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116658
chr17:55116699 A
A
 G
G
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 37 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-24611A>G
c.1490-24611A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116699
chr17:55116724 A
A
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-24586A>T
c.1490-24586A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116724
chr17:55116768 G
G
 A
A
 2 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0073g0259
a0001c0001t0099g0021
 2 HG03471.hp1
HG04228.hp2
HG03471.hp1
HG04228.hp2
 intron_variant MODIFIER c.1490-24542G>A
c.1490-24542G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116768
chr17:55116781 C
C
 T
T
 214 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(211): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 217 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(214): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-24529C>T
c.1490-24529C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116781
chr17:55116787 A
A
 T
T
 2 a0001c0001t0078g0234
a0001c0001t0134g0233
a0001c0001t0078g0234
a0001c0001t0134g0233
 2 HG02486.hp2
HG02622.hp2
HG02486.hp2
HG02622.hp2
 intron_variant MODIFIER c.1490-24523A>T
c.1490-24523A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116787
chr17:55116993 A
A
 T
T
 2 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0073g0259
a0001c0001t0099g0021
 2 HG03471.hp1
HG04228.hp2
HG03471.hp1
HG04228.hp2
 intron_variant MODIFIER c.1490-24317A>T
c.1490-24317A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55116993
chr17:55117098 C
C
 T
T
 4 a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
others(1): Show 
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
 4 NA19005.hp1
NA19007.hp2
NA19056.hp2
others(1): Show 
NA19005.hp1
NA19007.hp2
NA19056.hp2
NA19085.hp1
 intron_variant MODIFIER c.1490-24212C>T
c.1490-24212C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117098
chr17:55117188 T
T
 A
A
 1 a0001c0002t0005g0093
a0001c0002t0005g0093
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1490-24122T>A
c.1490-24122T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117188
chr17:55117253 G
G
 C
C
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1490-24057G>C
c.1490-24057G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117253
chr17:55117345 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-23965T>C
c.1490-23965T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117345
chr17:55117408 G
G
 A
A
 94 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(91): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 96 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(93): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-23902G>A
c.1490-23902G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117408
chr17:55117419 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1490-23891G>A
c.1490-23891G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117419
chr17:55117599 G
G
 GA
GA
 203 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(200): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 206 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(203): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-23700dupA
c.1490-23700dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55117599
chr17:55117764 A
A
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1490-23546A>G
c.1490-23546A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117764
chr17:55117770 T
T
 C
C
 1 a0001c0002t0107g0045
a0001c0002t0107g0045
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1490-23540T>C
c.1490-23540T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117770
chr17:55117965 G
G
 T
T
 1 a0001c0001t0014g0291
a0001c0001t0014g0291
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.1490-23345G>T
c.1490-23345G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55117965
chr17:55118061 T
T
 C
C
 1 a0001c0002t0002g0090
a0001c0002t0002g0090
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1490-23249T>C
c.1490-23249T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118061
chr17:55118090 A
A
 G
G
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1490-23220A>G
c.1490-23220A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118090
chr17:55118117 T
T
 C
C
 214 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(211): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 217 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(214): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-23193T>C
c.1490-23193T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118117
chr17:55118205 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-23105G>A
c.1490-23105G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118205
chr17:55118322 T
T
 C
C
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 37 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-22988T>C
c.1490-22988T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118322
chr17:55118412 A
A
 G
G
 2 a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0016g0004
a0002c0003t0016g0147
 3 HG01928.hp1
HG01993.hp1
HG02273.hp2
HG01928.hp1
HG01993.hp1
HG02273.hp2
 intron_variant MODIFIER c.1490-22898A>G
c.1490-22898A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118412
chr17:55118417 G
G
 C
C
 1 a0004c0007t0020g0009
a0004c0007t0020g0009
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1490-22893G>C
c.1490-22893G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118417
chr17:55118572 GAAAT
GAAAT
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-22733_1490-22
others(10): Show 
c.1490-22733_1490-22730delAAAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55118572
chr17:55118596 A
A
 T
T
 2 a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0027g0244
a0001c0001t0027g0249
 2 NA18953.hp1
NA18978.hp2
NA18953.hp1
NA18978.hp2
 intron_variant MODIFIER c.1490-22714A>T
c.1490-22714A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118596
chr17:55118685 C
C
 T
T
 4 a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
others(1): Show 
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0138
 4 HG02071.hp1
NA18970.hp1
NA19074.hp1
others(1): Show 
HG02071.hp1
NA18970.hp1
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-22625C>T
c.1490-22625C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118685
chr17:55118735 T
T
 G
G
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1490-22575T>G
c.1490-22575T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118735
chr17:55118762 G
G
 A
A
 1 a0001c0001t0003g0321
a0001c0001t0003g0321
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1490-22548G>A
c.1490-22548G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118762
chr17:55118771 C
C
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-22539C>G
c.1490-22539C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118771
chr17:55118808 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-22502G>A
c.1490-22502G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118808
chr17:55118898 T
T
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-22412T>C
c.1490-22412T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118898
chr17:55118930 G
G
 A
A
 57 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(54): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 59 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(56): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-22380G>A
c.1490-22380G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118930
chr17:55118942 T
T
 TTA
TTA
 33 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(30): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
a0001c0001t0098g0257
a0001c0001t0124g0177
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0089g0143
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
 33 HG00438.hp2
HG00673.hp1
HG00673.hp2
others(30): Show 
HG00438.hp2
HG00673.hp1
HG00673.hp2
HG01243.hp2
HG01433.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02922.hp2
HG03579.hp2
HG04115.hp1
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-22351_1490-22
others(8): Show 
c.1490-22351_1490-22350dupTA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55118942
chr17:55118942 T
T
 TTATA
TTATA
 14 a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
others(11): Show 
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 14 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(11): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-22353_1490-22
others(10): Show 
c.1490-22353_1490-22350dupTATA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55118942
chr17:55118961 A
A
 T
T
 1 a0001c0002t0004g0085
a0001c0002t0004g0085
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1490-22349A>T
c.1490-22349A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118961
chr17:55118989 T
T
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-22321T>G
c.1490-22321T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55118989
chr17:55119022 C
C
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-22288C>T
c.1490-22288C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119022
chr17:55119055 A
A
 T
T
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.1490-22255A>T
c.1490-22255A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119055
chr17:55119130 C
C
 T
T
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1490-22180C>T
c.1490-22180C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119130
chr17:55119186 C
C
 G
G
 3 a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0316
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0316
 3 HG01361.hp2
HG01433.hp2
HG01934.hp2
HG01361.hp2
HG01433.hp2
HG01934.hp2
 intron_variant MODIFIER c.1490-22124C>G
c.1490-22124C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119186
chr17:55119453 T
T
 C
C
 3 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
 3 HG02280.hp2
HG02630.hp1
HG02965.hp1
HG02280.hp2
HG02630.hp1
HG02965.hp1
 intron_variant MODIFIER c.1490-21857T>C
c.1490-21857T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119453
chr17:55119600 C
C
 T
T
 2 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0073g0259
a0001c0001t0099g0021
 2 HG03471.hp1
HG04228.hp2
HG03471.hp1
HG04228.hp2
 intron_variant MODIFIER c.1490-21710C>T
c.1490-21710C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119600
chr17:55119616 A
A
 T
T
 209 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(206): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 212 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(209): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-21694A>T
c.1490-21694A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119616
chr17:55119637 A
A
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-21673A>G
c.1490-21673A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119637
chr17:55119639 A
A
 C
C
 13 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(10): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 13 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(10): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-21671A>C
c.1490-21671A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119639
chr17:55119778 TTAA
TTAA
 T
T
 101 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(98): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 102 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-21528_1490-21
others(9): Show 
c.1490-21528_1490-21526delTAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55119778
chr17:55119867 A
A
 G
G
 1 a0002c0003t0088g0125
a0002c0003t0088g0125
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1490-21443A>G
c.1490-21443A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55119867
chr17:55120078 T
T
 C
C
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-21232T>C
c.1490-21232T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55120078
chr17:55120251 A
A
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-21059A>G
c.1490-21059A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55120251
chr17:55120303 C
C
 T
T
 6 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0081g0108
 6 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(3): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.1490-21007C>T
c.1490-21007C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55120303
chr17:55120625 A
A
 G
G
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.1490-20685A>G
c.1490-20685A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55120625
chr17:55120687 C
C
 T
T
 1 a0001c0001t0008g0332
a0001c0001t0008g0332
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1490-20623C>T
c.1490-20623C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55120687
chr17:55120815 G
G
 GT
GT
 145 a0001c0001t0001g0235
a0001c0001t0003g0211
a0001c0001t0003g0274
others(142): Show 
a0001c0001t0001g0235
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0195
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0002t0111g0046
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 148 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(145): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18952.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-20485dupT
c.1490-20485dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55120815
chr17:55120998 C
C
 T
T
 1 a0001c0001t0017g0288
a0001c0001t0017g0288
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.1490-20312C>T
c.1490-20312C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55120998
chr17:55121046 C
C
 T
T
 95 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(92): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 97 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(94): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-20264C>T
c.1490-20264C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121046
chr17:55121081 G
G
 A
A
 1 a0001c0001t0060g0242
a0001c0001t0060g0242
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.1490-20229G>A
c.1490-20229G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121081
chr17:55121103 A
A
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-20207A>C
c.1490-20207A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121103
chr17:55121289 G
G
 A
A
 1 a0005c0015t0011g0023
a0005c0015t0011g0023
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.1490-20021G>A
c.1490-20021G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121289
chr17:55121376 A
A
 T
T
 1 a0002c0003t0089g0143
a0002c0003t0089g0143
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1490-19934A>T
c.1490-19934A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121376
chr17:55121393 A
A
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-19917A>C
c.1490-19917A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121393
chr17:55121561 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-19749G>A
c.1490-19749G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121561
chr17:55121830 A
A
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-19480A>G
c.1490-19480A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121830
chr17:55121940 G
G
 A
A
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 37 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-19370G>A
c.1490-19370G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121940
chr17:55121984 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-19326G>A
c.1490-19326G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55121984
chr17:55122077 A
A
 G
G
 2 a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0016g0004
a0002c0003t0016g0147
 3 HG01928.hp1
HG01993.hp1
HG02273.hp2
HG01928.hp1
HG01993.hp1
HG02273.hp2
 intron_variant MODIFIER c.1490-19233A>G
c.1490-19233A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55122077
chr17:55122119 T
T
 C
C
 1 a0001c0001t0060g0242
a0001c0001t0060g0242
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.1490-19191T>C
c.1490-19191T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55122119
chr17:55122217 G
G
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-19093G>A
c.1490-19093G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55122217
chr17:55122402 A
A
 G
G
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1490-18908A>G
c.1490-18908A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55122402
chr17:55122580 G
G
 T
T
 13 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(10): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 13 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(10): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-18730G>T
c.1490-18730G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55122580
chr17:55122723 C
C
 A
A
 16 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(13): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0081g0108
a0001c0001t0090g0012
 16 HG02257.hp2
HG02647.hp1
HG02717.hp1
others(13): Show 
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-18587C>A
c.1490-18587C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55122723
chr17:55122753 C
C
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-18557C>T
c.1490-18557C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55122753
chr17:55122840 ACT
ACT
 A
A
 6 a0001c0001t0001g0243
a0001c0001t0004g0247
a0001c0001t0004g0248
others(3): Show 
a0001c0001t0001g0243
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0062g0246
 6 HG00673.hp1
NA18951.hp1
NA18962.hp2
others(3): Show 
HG00673.hp1
NA18951.hp1
NA18962.hp2
NA18999.hp1
NA19011.hp2
NA19091.hp2
 intron_variant MODIFIER c.1490-18467_1490-18
others(8): Show 
c.1490-18467_1490-18466delCT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55122840
chr17:55122996 G
G
 A
A
 2 a0001c0002t0002g0058
a0001c0002t0108g0097
a0001c0002t0002g0058
a0001c0002t0108g0097
 2 HG02572.hp1
HG03225.hp1
HG02572.hp1
HG03225.hp1
 intron_variant MODIFIER c.1490-18314G>A
c.1490-18314G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55122996
chr17:55123049 C
C
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-18261C>A
c.1490-18261C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123049
chr17:55123057 G
G
 A
A
 94 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(91): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 96 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(93): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-18253G>A
c.1490-18253G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123057
chr17:55123163 G
G
 C
C
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1490-18147G>C
c.1490-18147G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123163
chr17:55123292 G
G
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1490-18018G>T
c.1490-18018G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123292
chr17:55123347 C
C
 T
T
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-17963C>T
c.1490-17963C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123347
chr17:55123763 G
G
 T
T
 95 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(92): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 97 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(94): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-17547G>T
c.1490-17547G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123763
chr17:55123764 G
G
 A
A
 1 a0001c0001t0090g0012
a0001c0001t0090g0012
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1490-17546G>A
c.1490-17546G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123764
chr17:55123772 C
C
 T
T
 101 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(98): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 102 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-17538C>T
c.1490-17538C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123772
chr17:55123860 A
A
 G
G
 84 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(81): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 85 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(82): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1490-17450A>G
c.1490-17450A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123860
chr17:55123894 G
G
 C
C
 2 a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0016g0004
a0002c0003t0016g0147
 3 HG01928.hp1
HG01993.hp1
HG02273.hp2
HG01928.hp1
HG01993.hp1
HG02273.hp2
 intron_variant MODIFIER c.1490-17416G>C
c.1490-17416G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55123894
chr17:55124109 G
G
 A
A
 1 a0001c0001t0074g0011
a0001c0001t0074g0011
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1490-17201G>A
c.1490-17201G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124109
chr17:55124141 G
G
 A
A
 57 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(54): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 59 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(56): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-17169G>A
c.1490-17169G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124141
chr17:55124218 A
A
 G
G
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1490-17092A>G
c.1490-17092A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124218
chr17:55124438 A
A
 G
G
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1490-16872A>G
c.1490-16872A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124438
chr17:55124441 G
G
 A
A
 3 a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0316
a0001c0001t0003g0280
a0001c0001t0003g0289
a0001c0001t0003g0316
 3 HG01361.hp2
HG01433.hp2
HG01934.hp2
HG01361.hp2
HG01433.hp2
HG01934.hp2
 intron_variant MODIFIER c.1490-16869G>A
c.1490-16869G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124441
chr17:55124529 A
A
 C
C
 1 a0001c0001t0007g0081
a0001c0001t0007g0081
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1490-16781A>C
c.1490-16781A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124529
chr17:55124569 C
C
 G
G
 208 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-16741C>G
c.1490-16741C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124569
chr17:55124726 C
C
 T
T
 1 a0003c0004t0021g0331
a0003c0004t0021g0331
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1490-16584C>T
c.1490-16584C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124726
chr17:55124750 T
T
 G
G
 2 a0001c0001t0031g0269
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0132g0268
 2 HG02280.hp2
HG02965.hp1
HG02280.hp2
HG02965.hp1
 intron_variant MODIFIER c.1490-16560T>G
c.1490-16560T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55124750
chr17:55125031 G
G
 A
A
 208 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-16279G>A
c.1490-16279G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55125031
chr17:55125479 C
C
 CA
CA
 9 a0001c0001t0001g0191
a0001c0001t0001g0205
a0001c0001t0001g0209
others(6): Show 
a0001c0001t0001g0191
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0007g0214
a0001c0001t0115g0028
a0001c0002t0005g0098
a0001c0002t0005g0104
a0003c0006t0092g0113
a0008c0014t0133g0008
 9 HG01361.hp1
HG02004.hp1
HG02145.hp2
others(6): Show 
HG01361.hp1
HG02004.hp1
HG02145.hp2
HG02148.hp2
HG02818.hp2
HG03579.hp2
HG03942.hp2
NA18975.hp1
NA19005.hp2
 intron_variant MODIFIER c.1490-15810dupA
c.1490-15810dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 C
C
 CAA
CAA
 8 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(5): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0096g0062
a0001c0001t0098g0257
a0003c0004t0066g0362
a0003c0004t0077g0363
a0003c0006t0094g0022
 8 HG00673.hp2
HG01081.hp2
HG01433.hp1
others(5): Show 
HG00673.hp2
HG01081.hp2
HG01433.hp1
HG02486.hp1
HG02896.hp1
HG02976.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-15811_1490-15
others(8): Show 
c.1490-15811_1490-15810dupAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 C
C
 CAAA
CAAA
 19 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(16): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0012g0231
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0061g0239
a0001c0001t0064g0016
a0001c0001t0074g0011
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0002c0003t0011g0118
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0059g0365
a0009c0008t0021g0267
 19 HG02257.hp2
HG02630.hp2
HG02717.hp1
others(16): Show 
HG02257.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
NA18522.hp2
NA19030.hp1
NA19043.hp2
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.1490-15812_1490-15
others(9): Show 
c.1490-15812_1490-15810dupAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 C
C
 CAAAA
CAAAA
 68 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(65): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0063g0040
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0081g0108
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0003c0004t0028g0364
a0005c0015t0011g0023
 70 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(67): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03834.hp2
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-15813_1490-15
others(10): Show 
c.1490-15813_1490-15810dupAAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 C
C
 CAAAAA
CAAAAA
 11 a0001c0001t0001g0243
a0001c0001t0004g0248
a0001c0001t0004g0252
others(8): Show 
a0001c0001t0001g0243
a0001c0001t0004g0248
a0001c0001t0004g0252
a0001c0001t0012g0149
a0001c0001t0012g0232
a0001c0001t0027g0249
a0001c0001t0062g0246
a0001c0001t0095g0329
a0002c0003t0011g0142
a0002c0003t0079g0127
a0002c0003t0089g0143
 11 HG00673.hp1
HG01109.hp2
HG01175.hp2
others(8): Show 
HG00673.hp1
HG01109.hp2
HG01175.hp2
HG02630.hp1
HG03516.hp2
HG04115.hp1
NA18951.hp1
NA18978.hp2
NA19011.hp2
NA19030.hp2
NA19091.hp2
 intron_variant MODIFIER c.1490-15814_1490-15
others(11): Show 
c.1490-15814_1490-15810dupAAAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 C
C
 CAAAAAA
CAAAAAA
 6 a0001c0001t0004g0247
a0001c0001t0004g0300
a0001c0001t0008g0333
others(3): Show 
a0001c0001t0004g0247
a0001c0001t0004g0300
a0001c0001t0008g0333
a0001c0001t0008g0352
a0001c0001t0068g0339
a0001c0012t0100g0275
 6 HG02451.hp1
HG02572.hp2
NA18946.hp1
others(3): Show 
HG02451.hp1
HG02572.hp2
NA18946.hp1
NA18962.hp2
NA19002.hp1
NA19063.hp1
 intron_variant MODIFIER c.1490-15815_1490-15
others(12): Show 
c.1490-15815_1490-15810dupAAAAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 C
C
 CAAAAAAA
CAAAAAAA
 62 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(59): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0301
a0001c0001t0003g0303
a0001c0001t0003g0305
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0006g0296
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0007c0010t0003g0298
 63 HG00280.hp2
HG00621.hp1
HG01074.hp2
others(60): Show 
HG00280.hp2
HG00621.hp1
HG01074.hp2
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG06807.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19085.hp1
NA19088.hp1
NA20129.hp1
 intron_variant MODIFIER c.1490-15816_1490-15
others(13): Show 
c.1490-15816_1490-15810dupAAAAAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 C
C
 CAAAAAAA
others(1): Show 
CAAAAAAAA
 13 a0001c0001t0003g0302
a0001c0001t0003g0304
a0001c0001t0003g0309
others(10): Show 
a0001c0001t0003g0302
a0001c0001t0003g0304
a0001c0001t0003g0309
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0026g0311
a0001c0001t0040g0335
a0001c0001t0042g0355
a0001c0001t0053g0324
 13 HG00423.hp2
HG00733.hp1
HG01175.hp1
others(10): Show 
HG00423.hp2
HG00733.hp1
HG01175.hp1
HG02145.hp1
HG02886.hp1
HG03704.hp1
HG04199.hp2
NA18940.hp1
NA18945.hp1
NA18993.hp1
NA19065.hp2
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.1490-15817_1490-15
others(14): Show 
c.1490-15817_1490-15810dupAAAAAAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 CA
CA
 C
C
 40 a0001c0001t0001g0216
a0001c0001t0002g0168
a0001c0001t0120g0184
others(37): Show 
a0001c0001t0001g0216
a0001c0001t0002g0168
a0001c0001t0120g0184
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0049
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0102g0056
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0125g0042
a0001c0002t0128g0057
 42 HG00621.hp2
HG01070.hp2
HG02027.hp1
others(39): Show 
HG00621.hp2
HG01070.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02165.hp2
HG02572.hp1
HG02735.hp2
HG03098.hp1
HG03225.hp1
HG04228.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.1490-15810delA
c.1490-15810delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125479 CAAAAAAA
CAAAAAAA
 C
C
 13 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(10): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 13 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(10): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-15816_1490-15
others(13): Show 
c.1490-15816_1490-15810delAAAAAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55125479
chr17:55125616 T
T
 A
A
 214 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(211): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 217 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(214): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-15694T>A
c.1490-15694T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55125616
chr17:55125619 G
G
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1490-15691G>T
c.1490-15691G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55125619
chr17:55125736 T
T
 A
A
 208 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-15574T>A
c.1490-15574T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55125736
chr17:55125817 T
T
 A
A
 2 a0001c0001t0001g0170
a0001c0001t0001g0209
a0001c0001t0001g0170
a0001c0001t0001g0209
 2 HG01361.hp1
HG01943.hp1
HG01361.hp1
HG01943.hp1
 intron_variant MODIFIER c.1490-15493T>A
c.1490-15493T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55125817
chr17:55126011 G
G
 A
A
 13 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(10): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 13 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(10): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-15299G>A
c.1490-15299G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55126011
chr17:55126319 A
A
 G
G
 1 a0001c0001t0041g0293
a0001c0001t0041g0293
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1490-14991A>G
c.1490-14991A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55126319
chr17:55126331 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-14979G>A
c.1490-14979G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55126331
chr17:55126400 A
A
 C
C
 9 a0001c0001t0001g0006
a0001c0001t0001g0178
a0001c0001t0001g0180
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0214
a0001c0001t0007g0348
a0001c0001t0129g0161
 10 NA18948.hp1
NA18952.hp2
NA18955.hp1
others(7): Show 
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18969.hp1
NA18975.hp1
NA19058.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19091.hp1
 intron_variant MODIFIER c.1490-14910A>C
c.1490-14910A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55126400
chr17:55126566 G
G
 A
A
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1490-14744G>A
c.1490-14744G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55126566
chr17:55126644 A
A
 T
T
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-14666A>T
c.1490-14666A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55126644
chr17:55126694 A
A
 G
G
 208 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-14616A>G
c.1490-14616A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55126694
chr17:55126817 C
C
 T
T
 211 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(208): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 214 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(211): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-14493C>T
c.1490-14493C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55126817
chr17:55127037 A
A
 G
G
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1490-14273A>G
c.1490-14273A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127037
chr17:55127149 T
T
 C
C
 2 a0001c0001t0073g0259
a0001c0001t0099g0021
a0001c0001t0073g0259
a0001c0001t0099g0021
 2 HG03471.hp1
HG04228.hp2
HG03471.hp1
HG04228.hp2
 intron_variant MODIFIER c.1490-14161T>C
c.1490-14161T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127149
chr17:55127290 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-14020G>A
c.1490-14020G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127290
chr17:55127386 G
G
 A
A
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1490-13924G>A
c.1490-13924G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127386
chr17:55127398 T
T
 A
A
 208 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-13912T>A
c.1490-13912T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127398
chr17:55127477 A
A
 G
G
 1 a0001c0001t0068g0339
a0001c0001t0068g0339
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.1490-13833A>G
c.1490-13833A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127477
chr17:55127498 T
T
 A
A
 208 a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-13812T>A
c.1490-13812T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127498
chr17:55127582 G
G
 T
T
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1490-13728G>T
c.1490-13728G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127582
chr17:55127674 A
A
 G
G
 1 a0002c0003t0088g0125
a0002c0003t0088g0125
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1490-13636A>G
c.1490-13636A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127674
chr17:55127751 A
A
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-13559A>G
c.1490-13559A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127751
chr17:55127937 G
G
 A
A
 2 a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0037g0047
a0001c0002t0037g0048
 2 NA18957.hp1
NA19079.hp1
NA18957.hp1
NA19079.hp1
 intron_variant MODIFIER c.1490-13373G>A
c.1490-13373G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127937
chr17:55127955 G
G
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-13355G>C
c.1490-13355G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127955
chr17:55127957 CTTCAT
CTTCAT
 C
C
 84 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(81): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 85 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(82): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1490-13347_1490-13
others(11): Show 
c.1490-13347_1490-13343delTTCAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55127957
chr17:55127995 G
G
 A
A
 108 a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
others(105): Show 
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 109 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(106): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-13315G>A
c.1490-13315G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55127995
chr17:55128008 T
T
 C
C
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 37 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-13302T>C
c.1490-13302T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128008
chr17:55128022 T
T
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-13288T>C
c.1490-13288T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128022
chr17:55128155 T
T
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-13155T>G
c.1490-13155T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128155
chr17:55128179 T
T
 C
C
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-13131T>C
c.1490-13131T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128179
chr17:55128287 T
T
 TTCTGGCA
others(21): Show 
TTCTGGCAGATCCAGAGTCTGGGCAGGTA
 3 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
 3 HG02723.hp2
HG03195.hp2
NA20300.hp2
HG02723.hp2
HG03195.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-13022_1490-12
others(34): Show 
c.1490-13022_1490-12995dupTCTGGCAGATCCAGAGTCTGGGCA
GGTA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55128287
chr17:55128358 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-12952G>A
c.1490-12952G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128358
chr17:55128400 AT
AT
 A
A
 58 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(55): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 60 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(57): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-12908delT
c.1490-12908delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55128400
chr17:55128556 A
A
 G
G
 96 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(93): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 98 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(95): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-12754A>G
c.1490-12754A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128556
chr17:55128596 TTTTG
TTTTG
 T
T
 6 a0001c0002t0002g0039
a0001c0002t0005g0099
a0001c0002t0005g0100
others(3): Show 
a0001c0002t0002g0039
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
 6 HG01168.hp1
HG01261.hp1
HG01346.hp1
others(3): Show 
HG01168.hp1
HG01261.hp1
HG01346.hp1
HG02698.hp2
HG03098.hp1
NA21309.hp2
 intron_variant MODIFIER c.1490-12688_1490-12
others(10): Show 
c.1490-12688_1490-12685delTTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55128596
chr17:55128622 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-12688T>C
c.1490-12688T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128622
chr17:55128693 G
G
 C
C
 1 a0001c0002t0005g0076
a0001c0002t0005g0076
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.1490-12617G>C
c.1490-12617G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128693
chr17:55128777 G
G
 A
A
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-12533G>A
c.1490-12533G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128777
chr17:55128797 T
T
 C
C
 1 a0003c0006t0092g0113
a0003c0006t0092g0113
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1490-12513T>C
c.1490-12513T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128797
chr17:55128803 C
C
 T
T
 58 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(55): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0099g0021
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 60 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(57): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19030.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-12507C>T
c.1490-12507C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128803
chr17:55128925 C
C
 CT
CT
 37 a0001c0001t0001g0165
a0001c0001t0001g0243
a0001c0001t0003g0328
others(34): Show 
a0001c0001t0001g0165
a0001c0001t0001g0243
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0248
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0007g0196
a0001c0001t0008g0352
a0001c0001t0008g0359
a0001c0001t0022g0358
a0001c0001t0027g0244
a0001c0001t0035g0167
a0001c0001t0050g0360
a0001c0001t0057g0317
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0002t0002g0034
a0001c0002t0002g0039
a0001c0002t0002g0066
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0107g0045
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0006t0092g0113
a0003c0006t0094g0022
 37 HG00438.hp2
HG00673.hp1
HG02109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02809.hp1
HG02895.hp2
HG03098.hp1
HG03579.hp2
HG03704.hp2
HG06807.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18968.hp1
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19086.hp1
NA19090.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-12362dupT
c.1490-12362dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55128925
chr17:55128925 CT
CT
 C
C
 56 a0001c0001t0001g0169
a0001c0001t0001g0188
a0001c0001t0001g0201
others(53): Show 
a0001c0001t0001g0169
a0001c0001t0001g0188
a0001c0001t0001g0201
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0231
a0001c0001t0017g0368
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0095g0329
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0002t0005g0103
a0001c0002t0037g0047
a0002c0003t0011g0142
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 56 HG00673.hp2
HG01081.hp2
HG01175.hp2
others(53): Show 
HG00673.hp2
HG01081.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18957.hp1
NA18962.hp1
NA18963.hp2
NA18998.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-12362delT
c.1490-12362delT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55128925
chr17:55128925 CTT
CTT
 C
C
 31 a0001c0001t0009g0017
a0001c0001t0134g0233
a0002c0003t0004g0122
others(28): Show 
a0001c0001t0009g0017
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 33 HG00558.hp2
HG01071.hp1
HG01106.hp1
others(30): Show 
HG00558.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02622.hp2
HG02717.hp1
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-12363_1490-12
others(8): Show 
c.1490-12363_1490-12362delTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55128925
chr17:55128925 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 1 a0001c0001t0008g0332
a0001c0001t0008g0332
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1490-12373_1490-12
others(18): Show 
c.1490-12373_1490-12362delTTTTTTTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55128925
chr17:55128925 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-12374_1490-12
others(19): Show 
c.1490-12374_1490-12362delTTTTTTTTTTTTT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55128925
chr17:55128944 T
T
 G
G
 7 a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0018g0223
others(4): Show 
a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0091g0225
a0001c0001t0097g0222
 7 HG01109.hp1
HG03516.hp2
NA18951.hp2
others(4): Show 
HG01109.hp1
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-12366T>G
c.1490-12366T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55128944
chr17:55129088 C
C
 G
G
 41 a0001c0001t0001g0171
a0001c0001t0002g0344
a0001c0002t0001g0106
others(38): Show 
a0001c0001t0001g0171
a0001c0001t0002g0344
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0102g0056
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0125g0042
a0001c0002t0128g0057
 43 HG00621.hp2
HG02027.hp1
HG02040.hp1
others(40): Show 
HG00621.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp2
HG02572.hp1
HG02735.hp2
HG03225.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
 intron_variant MODIFIER c.1490-12222C>G
c.1490-12222C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129088
chr17:55129090 C
C
 T
T
 6 a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
others(3): Show 
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0081g0108
 6 HG02723.hp2
HG03195.hp2
HG03486.hp1
others(3): Show 
HG02723.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.1490-12220C>T
c.1490-12220C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129090
chr17:55129103 C
C
 T
T
 213 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(210): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-12207C>T
c.1490-12207C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129103
chr17:55129158 C
C
 G
G
 208 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-12152C>G
c.1490-12152C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129158
chr17:55129192 G
G
 T
T
 4 a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
others(1): Show 
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0002c0003t0088g0125
 4 HG01109.hp2
HG01123.hp2
HG01517.hp2
others(1): Show 
HG01109.hp2
HG01123.hp2
HG01517.hp2
HG02055.hp2
 intron_variant MODIFIER c.1490-12118G>T
c.1490-12118G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129192
chr17:55129447 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-11863G>A
c.1490-11863G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129447
chr17:55129485 A
A
 G
G
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-11825A>G
c.1490-11825A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129485
chr17:55129700 A
A
 G
G
 213 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(210): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-11610A>G
c.1490-11610A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129700
chr17:55129972 A
A
 G
G
 1 a0001c0001t0003g0280
a0001c0001t0003g0280
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1490-11338A>G
c.1490-11338A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55129972
chr17:55130329 A
A
 C
C
 1 a0001c0001t0004g0241
a0001c0001t0004g0241
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.1490-10981A>C
c.1490-10981A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130329
chr17:55130342 G
G
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-10968G>A
c.1490-10968G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130342
chr17:55130526 T
T
 C
C
 10 a0001c0001t0012g0149
a0001c0001t0012g0230
a0001c0001t0012g0231
others(7): Show 
a0001c0001t0012g0149
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0091g0225
a0001c0001t0097g0222
 10 HG01109.hp1
HG02976.hp2
HG03471.hp2
others(7): Show 
HG01109.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-10784T>C
c.1490-10784T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130526
chr17:55130590 G
G
 A
A
 2 a0001c0001t0004g0236
a0001c0001t0004g0240
a0001c0001t0004g0236
a0001c0001t0004g0240
 2 NA19064.hp1
NA19065.hp1
NA19064.hp1
NA19065.hp1
 intron_variant MODIFIER c.1490-10720G>A
c.1490-10720G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130590
chr17:55130632 A
A
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-10678A>G
c.1490-10678A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130632
chr17:55130690 C
C
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-10620C>T
c.1490-10620C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130690
chr17:55130775 T
T
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-10535T>A
c.1490-10535T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130775
chr17:55130790 T
T
 C
C
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-10520T>C
c.1490-10520T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130790
chr17:55130848 G
G
 A
A
 3 a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0095g0329
a0001c0001t0132g0268
 3 HG02280.hp2
HG02630.hp1
HG02965.hp1
HG02280.hp2
HG02630.hp1
HG02965.hp1
 intron_variant MODIFIER c.1490-10462G>A
c.1490-10462G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130848
chr17:55130969 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1490-10341G>A
c.1490-10341G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55130969
chr17:55131089 T
T
 C
C
 72 a0001c0001t0001g0171
a0001c0001t0002g0344
a0001c0002t0001g0106
others(69): Show 
a0001c0001t0001g0171
a0001c0001t0002g0344
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 74 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(71): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1490-10221T>C
c.1490-10221T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131089
chr17:55131186 C
C
 A
A
 7 a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
others(4): Show 
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
 7 NA18941.hp1
NA18962.hp1
NA18973.hp1
others(4): Show 
NA18941.hp1
NA18962.hp1
NA18973.hp1
NA18991.hp2
NA19004.hp1
NA19056.hp1
NA19063.hp1
 intron_variant MODIFIER c.1490-10124C>A
c.1490-10124C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131186
chr17:55131273 T
T
 C
C
 3 a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 3 HG02257.hp2
NA18522.hp2
NA19030.hp1
HG02257.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1490-10037T>C
c.1490-10037T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131273
chr17:55131358 T
T
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-9952T>A
c.1490-9952T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131358
chr17:55131433 G
G
 A
A
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1490-9877G>A
c.1490-9877G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131433
chr17:55131448 A
A
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-9862A>C
c.1490-9862A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131448
chr17:55131572 G
G
 A
A
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1490-9738G>A
c.1490-9738G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131572
chr17:55131673 G
G
 T
T
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1490-9637G>T
c.1490-9637G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131673
chr17:55131675 A
A
 G
G
 1 a0001c0001t0003g0289
a0001c0001t0003g0289
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1490-9635A>G
c.1490-9635A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55131675
chr17:55132001 A
A
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-9309A>T
c.1490-9309A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132001
chr17:55132021 G
G
 C
C
 203 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(200): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 206 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(203): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-9289G>C
c.1490-9289G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132021
chr17:55132092 A
A
 G
G
 3 a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
 3 NA18975.hp2
NA19002.hp1
NA19088.hp1
NA18975.hp2
NA19002.hp1
NA19088.hp1
 intron_variant MODIFIER c.1490-9218A>G
c.1490-9218A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132092
chr17:55132144 G
G
 T
T
 208 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-9166G>T
c.1490-9166G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132144
chr17:55132154 A
A
 C
C
 213 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(210): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-9156A>C
c.1490-9156A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132154
chr17:55132196 T
T
 C
C
 1 a0001c0001t0003g0316
a0001c0001t0003g0316
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1490-9114T>C
c.1490-9114T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132196
chr17:55132347 C
C
 T
T
 1 a0001c0001t0095g0329
a0001c0001t0095g0329
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1490-8963C>T
c.1490-8963C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132347
chr17:55132380 G
G
 A
A
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 37 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(34): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-8930G>A
c.1490-8930G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132380
chr17:55132413 A
A
 C
C
 95 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(92): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 97 HG00099.hp2
HG00438.hp2
HG00558.hp2
others(94): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-8897A>C
c.1490-8897A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132413
chr17:55132427 G
G
 A
A
 206 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(203): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 209 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(206): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-8883G>A
c.1490-8883G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132427
chr17:55132492 T
T
 C
C
 1 a0001c0002t0002g0090
a0001c0002t0002g0090
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1490-8818T>C
c.1490-8818T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132492
chr17:55132577 A
A
 G
G
 1 a0001c0001t0053g0324
a0001c0001t0053g0324
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.1490-8733A>G
c.1490-8733A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132577
chr17:55132749 G
G
 A
A
 83 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(80): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 84 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(81): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1490-8561G>A
c.1490-8561G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132749
chr17:55132753 CAG
CAG
 C
C
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-8554_1490-855
others(6): Show 
c.1490-8554_1490-8553delAG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55132753
chr17:55132759 C
C
 T
T
 210 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(207): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 213 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(210): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-8551C>T
c.1490-8551C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132759
chr17:55132951 A
A
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-8359A>G
c.1490-8359A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132951
chr17:55132953 G
G
 A
A
 34 a0001c0001t0078g0234
a0001c0001t0134g0233
a0002c0003t0004g0122
others(31): Show 
a0001c0001t0078g0234
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 36 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(33): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-8357G>A
c.1490-8357G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132953
chr17:55132972 C
C
 T
T
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1490-8338C>T
c.1490-8338C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55132972
chr17:55133031 G
G
 T
T
 1 a0001c0001t0026g0311
a0001c0001t0026g0311
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.1490-8279G>T
c.1490-8279G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133031
chr17:55133317 T
T
 C
C
 1 a0001c0002t0002g0030
a0001c0002t0002g0030
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.1490-7993T>C
c.1490-7993T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133317
chr17:55133395 A
A
 G
G
 2 a0001c0001t0004g0245
a0001c0001t0004g0250
a0001c0001t0004g0245
a0001c0001t0004g0250
 2 HG02080.hp2
HG02083.hp1
HG02080.hp2
HG02083.hp1
 intron_variant MODIFIER c.1490-7915A>G
c.1490-7915A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133395
chr17:55133413 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-7897G>A
c.1490-7897G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133413
chr17:55133472 A
A
 G
G
 1 a0001c0001t0004g0252
a0001c0001t0004g0252
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.1490-7838A>G
c.1490-7838A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133472
chr17:55133749 T
T
 C
C
 41 a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
others(38): Show 
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 43 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(40): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18941.hp1
NA18952.hp1
NA18962.hp1
NA18970.hp1
NA18973.hp1
NA18978.hp1
NA18991.hp2
NA19004.hp1
NA19056.hp1
NA19063.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-7561T>C
c.1490-7561T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133749
chr17:55133770 G
G
 A
A
 1 a0001c0001t0012g0231
a0001c0001t0012g0231
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1490-7540G>A
c.1490-7540G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133770
chr17:55133816 C
C
 T
T
 208 a0001c0001t0001g0171
a0001c0001t0001g0243
a0001c0001t0003g0211
others(205): Show 
a0001c0001t0001g0171
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-7494C>T
c.1490-7494C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133816
chr17:55133817 G
G
 A
A
 72 a0001c0001t0002g0344
a0001c0001t0114g0026
a0001c0002t0001g0106
others(69): Show 
a0001c0001t0002g0344
a0001c0001t0114g0026
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 74 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(71): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1490-7493G>A
c.1490-7493G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133817
chr17:55133885 A
A
 G
G
 2 a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0185
a0001c0001t0001g0186
 2 NA18970.hp2
NA19007.hp1
NA18970.hp2
NA19007.hp1
 intron_variant MODIFIER c.1490-7425A>G
c.1490-7425A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55133885
chr17:55134031 A
A
 T
T
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-7279A>T
c.1490-7279A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134031
chr17:55134166 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-7144G>A
c.1490-7144G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134166
chr17:55134305 T
T
 A
A
 1 a0001c0001t0001g0220
a0001c0001t0001g0220
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.1490-7005T>A
c.1490-7005T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134305
chr17:55134352 A
A
 G
G
 208 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(205): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 211 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(208): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-6958A>G
c.1490-6958A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134352
chr17:55134372 T
T
 C
C
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-6938T>C
c.1490-6938T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134372
chr17:55134418 TA
TA
 T
T
 100 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(97): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0095g0329
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 101 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(98): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-6884delA
c.1490-6884delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55134418
chr17:55134485 C
C
 G
G
 1 a0001c0001t0009g0017
a0001c0001t0009g0017
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1490-6825C>G
c.1490-6825C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134485
chr17:55134692 A
A
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-6618A>G
c.1490-6618A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134692
chr17:55134710 G
G
 T
T
 2 a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0051g0136
a0002c0003t0054g0141
 2 HG00438.hp2
HG02155.hp2
HG00438.hp2
HG02155.hp2
 intron_variant MODIFIER c.1490-6600G>T
c.1490-6600G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134710
chr17:55134730 C
C
 A
A
 5 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
others(2): Show 
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 intron_variant MODIFIER c.1490-6580C>A
c.1490-6580C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134730
chr17:55134732 C
C
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-6578C>G
c.1490-6578C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134732
chr17:55134888 C
C
 T
T
 1 a0001c0001t0068g0339
a0001c0001t0068g0339
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.1490-6422C>T
c.1490-6422C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134888
chr17:55134940 G
G
 GC
GC
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-6370_1490-636
others(5): Show 
c.1490-6370_1490-6369insC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55134940
chr17:55135123 T
T
 C
C
 13 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(10): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 13 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(10): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-6187T>C
c.1490-6187T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135123
chr17:55135155 T
T
 C
C
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-6155T>C
c.1490-6155T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135155
chr17:55135211 A
A
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-6099A>T
c.1490-6099A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135211
chr17:55135212 A
A
 G
G
 41 a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
others(38): Show 
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0078g0234
a0001c0001t0082g0334
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 43 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(40): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18941.hp1
NA18952.hp1
NA18962.hp1
NA18970.hp1
NA18973.hp1
NA18978.hp1
NA18991.hp2
NA19004.hp1
NA19056.hp1
NA19063.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-6098A>G
c.1490-6098A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135212
chr17:55135294 C
C
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-6016C>T
c.1490-6016C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135294
chr17:55135301 A
A
 T
T
 1 a0001c0001t0004g0240
a0001c0001t0004g0240
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.1490-6009A>T
c.1490-6009A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135301
chr17:55135406 G
G
 A
A
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1490-5904G>A
c.1490-5904G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135406
chr17:55135442 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-5868G>A
c.1490-5868G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135442
chr17:55135821 T
T
 C
C
 13 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(10): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 13 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(10): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-5489T>C
c.1490-5489T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135821
chr17:55135836 A
A
 G
G
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-5474A>G
c.1490-5474A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135836
chr17:55135837 C
C
 T
T
 7 a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0018g0223
others(4): Show 
a0001c0001t0012g0149
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0091g0225
a0001c0001t0097g0222
 7 HG01109.hp1
HG03516.hp2
NA18951.hp2
others(4): Show 
HG01109.hp1
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-5473C>T
c.1490-5473C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135837
chr17:55135872 T
T
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-5438T>C
c.1490-5438T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55135872
chr17:55136230 A
A
 G
G
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-5080A>G
c.1490-5080A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136230
chr17:55136302 C
C
 T
T
 1 a0001c0001t0095g0329
a0001c0001t0095g0329
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1490-5008C>T
c.1490-5008C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136302
chr17:55136373 C
C
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1490-4937C>T
c.1490-4937C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136373
chr17:55136388 G
G
 T
T
 3 a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
 3 HG02257.hp2
NA18522.hp2
NA19030.hp1
HG02257.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1490-4922G>T
c.1490-4922G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136388
chr17:55136667 C
C
 A
A
 1 a0001c0001t0097g0222
a0001c0001t0097g0222
 1 NA19006.hp2
NA19006.hp2
 intron_variant MODIFIER c.1490-4643C>A
c.1490-4643C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136667
chr17:55136719 T
T
 C
C
 24 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(21): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 24 HG00438.hp2
HG00673.hp1
HG02027.hp2
others(21): Show 
HG00438.hp2
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-4591T>C
c.1490-4591T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136719
chr17:55136804 A
A
 T
T
 24 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(21): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 24 HG00438.hp2
HG00673.hp1
HG02027.hp2
others(21): Show 
HG00438.hp2
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-4506A>T
c.1490-4506A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136804
chr17:55136840 G
G
 A
A
 71 a0001c0001t0002g0344
a0001c0002t0001g0106
a0001c0002t0002g0001
others(68): Show 
a0001c0001t0002g0344
a0001c0002t0001g0106
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 73 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(70): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19054.hp2
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1490-4470G>A
c.1490-4470G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136840
chr17:55136913 A
A
 G
G
 1 a0001c0001t0004g0325
a0001c0001t0004g0325
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1490-4397A>G
c.1490-4397A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136913
chr17:55136971 C
C
 T
T
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-4339C>T
c.1490-4339C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136971
chr17:55136979 A
A
 C
C
 1 a0001c0002t0107g0045
a0001c0002t0107g0045
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1490-4331A>C
c.1490-4331A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55136979
chr17:55137156 G
G
 A
A
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-4154G>A
c.1490-4154G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55137156
chr17:55137243 G
G
 GT
GT
 44 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(41): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0002t0004g0085
a0002c0003t0051g0136
a0002c0003t0054g0141
 44 HG00438.hp2
HG00673.hp1
HG01109.hp1
others(41): Show 
HG00438.hp2
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02155.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp2
HG02647.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-4065dupT
c.1490-4065dupT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 INFO_REALIGN_3_PRIME chr17 55137243
chr17:55137271 T
T
 C
C
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-4039T>C
c.1490-4039T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55137271
chr17:55137273 T
T
 C
C
 207 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(204): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0005c0015t0011g0023
a0007c0010t0003g0298
a0009c0008t0021g0267
 210 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(207): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-4037T>C
c.1490-4037T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55137273
chr17:55137293 C
C
 T
T
 58 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(55): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0078g0234
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0090g0012
a0001c0001t0099g0021
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 60 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(57): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18941.hp1
NA18952.hp1
NA18962.hp1
NA18970.hp1
NA18973.hp1
NA18978.hp1
NA18991.hp2
NA19004.hp1
NA19030.hp1
NA19056.hp1
NA19063.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1490-4017C>T
c.1490-4017C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55137293
chr17:55137554 C
C
 T
T
 8 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(5): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0131g0264
 8 HG02055.hp1
HG02109.hp2
HG02622.hp1
others(5): Show 
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02970.hp1
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1490-3756C>T
c.1490-3756C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55137554
chr17:55137778 G
G
 A
A
 2 a0001c0001t0006g0296
a0003c0004t0015g0279
a0001c0001t0006g0296
a0003c0004t0015g0279
 2 NA18982.hp1
NA19240.hp1
NA18982.hp1
NA19240.hp1
 intron_variant MODIFIER c.1490-3532G>A
c.1490-3532G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55137778
chr17:55137862 G
G
 A
A
 213 a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
others(210): Show 
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1490-3448G>A
c.1490-3448G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55137862
chr17:55137867 T
T
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1490-3443T>C
c.1490-3443T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55137867
chr17:55138050 T
T
 C
C
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-3260T>C
c.1490-3260T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55138050
chr17:55138102 A
A
 G
G
 1 a0001c0001t0003g0326
a0001c0001t0003g0326
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1490-3208A>G
c.1490-3208A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55138102
chr17:55138283 A
A
 G
G
 83 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(80): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0007c0010t0003g0298
 84 HG00280.hp2
HG00423.hp2
HG00621.hp1
others(81): Show 
HG00280.hp2
HG00423.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1490-3027A>G
c.1490-3027A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55138283
chr17:55138564 C
C
 T
T
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1490-2746C>T
c.1490-2746C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55138564
chr17:55138897 A
A
 G
G
 1 a0001c0001t0002g0344
a0001c0001t0002g0344
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1490-2413A>G
c.1490-2413A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55138897
chr17:55139380 C
C
 T
T
 13 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(10): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0097g0222
 13 HG01109.hp1
HG02280.hp1
HG02647.hp2
others(10): Show 
HG01109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
 intron_variant MODIFIER c.1490-1930C>T
c.1490-1930C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139380
chr17:55139383 G
G
 A
A
 1 a0001c0001t0099g0021
a0001c0001t0099g0021
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1490-1927G>A
c.1490-1927G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139383
chr17:55139400 A
A
 G
G
 5 a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
others(2): Show 
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
 5 HG01081.hp2
HG02257.hp1
HG02723.hp1
others(2): Show 
HG01081.hp2
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
 intron_variant MODIFIER c.1490-1910A>G
c.1490-1910A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139400
chr17:55139402 T
T
 C
C
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-1908T>C
c.1490-1908T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139402
chr17:55139449 G
G
 A
A
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-1861G>A
c.1490-1861G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139449
chr17:55139624 A
A
 T
T
 39 a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
others(36): Show 
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 41 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(38): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18941.hp1
NA18952.hp1
NA18962.hp1
NA18970.hp1
NA18973.hp1
NA18978.hp1
NA18991.hp2
NA19004.hp1
NA19056.hp1
NA19063.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
 intron_variant MODIFIER c.1490-1686A>T
c.1490-1686A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139624
chr17:55139751 T
T
 G
G
 1 a0001c0002t0005g0105
a0001c0002t0005g0105
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.1490-1559T>G
c.1490-1559T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139751
chr17:55139764 T
T
 A
A
 1 a0001c0001t0010g0270
a0001c0001t0010g0270
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1490-1546T>A
c.1490-1546T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139764
chr17:55139986 G
G
 A
A
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1490-1324G>A
c.1490-1324G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55139986
chr17:55140032 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1490-1278G>A
c.1490-1278G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55140032
chr17:55140341 T
T
 C
C
 1 a0001c0001t0009g0018
a0001c0001t0009g0018
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1490-969T>C
c.1490-969T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55140341
chr17:55140407 G
G
 A
A
 36 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(33): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0002t0004g0085
 36 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(33): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1490-903G>A
c.1490-903G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55140407
chr17:55140539 C
C
 T
T
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1490-771C>T
c.1490-771C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55140539
chr17:55141043 A
A
 G
G
 3 a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0016g0130
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0016g0130
 3 HG01070.hp1
HG01071.hp1
HG01358.hp1
HG01070.hp1
HG01071.hp1
HG01358.hp1
 intron_variant MODIFIER c.1490-267A>G
c.1490-267A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 16/17 chr17 55141043
chr17:55141652 G
G
 GTA
GTA
 22 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(19): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0093g0237
a0001c0002t0004g0085
 22 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(19): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19011.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1547+287_1547+288d
others(4): Show 
c.1547+287_1547+288dupAT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55141652
chr17:55142111 C
C
 G
G
 2 a0002c0003t0006g0003
a0002c0003t0083g0132
a0002c0003t0006g0003
a0002c0003t0083g0132
 3 HG01168.hp2
HG01169.hp2
HG03834.hp2
HG01168.hp2
HG01169.hp2
HG03834.hp2
 intron_variant MODIFIER c.1547+744C>G
c.1547+744C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142111
chr17:55142476 A
A
 G
G
 98 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(95): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0008c0014t0133g0008
 100 HG00099.hp2
HG00558.hp2
HG00673.hp1
others(97): Show 
HG00099.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+1109A>G
c.1547+1109A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142476
chr17:55142476 A
A
 T
T
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1547+1109A>T
c.1547+1109A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142476
chr17:55142505 A
A
 G
G
 1 a0002c0003t0084g0137
a0002c0003t0084g0137
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1547+1138A>G
c.1547+1138A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142505
chr17:55142530 T
T
 C
C
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1547+1163T>C
c.1547+1163T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142530
chr17:55142598 A
A
 G
G
 44 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(41): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0002t0004g0085
 44 HG00673.hp1
HG01109.hp1
HG02027.hp2
others(41): Show 
HG00673.hp1
HG01109.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1547+1231A>G
c.1547+1231A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142598
chr17:55142636 GA
GA
 G
G
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1547+1277delA
c.1547+1277delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55142636
chr17:55142674 T
T
 C
C
 1 a0001c0002t0002g0039
a0001c0002t0002g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1547+1307T>C
c.1547+1307T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142674
chr17:55142771 C
C
 T
T
 7 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(4): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0087g0117
 7 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(4): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.1547+1404C>T
c.1547+1404C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142771
chr17:55142980 T
T
 C
C
 1 a0001c0002t0002g0039
a0001c0002t0002g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1547+1613T>C
c.1547+1613T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142980
chr17:55142985 A
A
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1547+1618A>T
c.1547+1618A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55142985
chr17:55143028 T
T
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1547+1661T>G
c.1547+1661T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143028
chr17:55143052 TA
TA
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1547+1687delA
c.1547+1687delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55143052
chr17:55143077 G
G
 A
A
 2 a0003c0004t0021g0331
a0009c0008t0021g0267
a0003c0004t0021g0331
a0009c0008t0021g0267
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 intron_variant MODIFIER c.1547+1710G>A
c.1547+1710G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143077
chr17:55143090 C
C
 T
T
 1 a0001c0002t0005g0101
a0001c0002t0005g0101
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1547+1723C>T
c.1547+1723C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143090
chr17:55143259 A
A
 G
G
 108 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(105): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 109 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(106): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1547+1892A>G
c.1547+1892A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143259
chr17:55143291 G
G
 C
C
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1547+1924G>C
c.1547+1924G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143291
chr17:55143406 C
C
 T
T
 1 a0001c0001t0096g0062
a0001c0001t0096g0062
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1547+2039C>T
c.1547+2039C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143406
chr17:55143467 A
A
 T
T
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1547+2100A>T
c.1547+2100A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143467
chr17:55143499 C
C
 T
T
 3 a0002c0003t0051g0136
a0002c0003t0054g0141
a0007c0010t0003g0298
a0002c0003t0051g0136
a0002c0003t0054g0141
a0007c0010t0003g0298
 3 HG00438.hp2
HG01943.hp2
HG02155.hp2
HG00438.hp2
HG01943.hp2
HG02155.hp2
 intron_variant MODIFIER c.1547+2132C>T
c.1547+2132C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143499
chr17:55143501 G
G
 A
A
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1547+2134G>A
c.1547+2134G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143501
chr17:55143663 C
C
 A
A
 1 a0007c0010t0003g0298
a0007c0010t0003g0298
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1547+2296C>A
c.1547+2296C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143663
chr17:55143675 C
C
 T
T
 3 a0001c0001t0001g0084
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0084
a0001c0001t0001g0188
a0001c0001t0001g0189
 3 HG03490.hp1
HG03492.hp2
NA20905.hp1
HG03490.hp1
HG03492.hp2
NA20905.hp1
 intron_variant MODIFIER c.1547+2308C>T
c.1547+2308C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143675
chr17:55143748 G
G
 A
A
 1 a0001c0001t0035g0167
a0001c0001t0035g0167
 1 NA18991.hp1
NA18991.hp1
 intron_variant MODIFIER c.1547+2381G>A
c.1547+2381G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55143748
chr17:55144004 T
T
 TGC
TGC
 4 a0001c0001t0009g0018
a0001c0001t0019g0015
a0001c0001t0063g0040
others(1): Show 
a0001c0001t0009g0018
a0001c0001t0019g0015
a0001c0001t0063g0040
a0001c0001t0071g0109
 4 HG02647.hp1
HG02809.hp2
HG03516.hp1
others(1): Show 
HG02647.hp1
HG02809.hp2
HG03516.hp1
NA19030.hp1
 intron_variant MODIFIER c.1547+2638_1547+263
others(6): Show 
c.1547+2638_1547+2639dupGC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144004
chr17:55144005 G
G
 GCA
GCA
 63 a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0188
others(60): Show 
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0204
a0001c0001t0001g0207
a0001c0001t0001g0218
a0001c0001t0001g0220
a0001c0001t0002g0168
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0305
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0327
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0007g0081
a0001c0001t0007g0196
a0001c0001t0007g0217
a0001c0001t0008g0354
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0336
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0034g0254
a0001c0001t0041g0293
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0114g0026
a0001c0001t0115g0028
a0001c0001t0116g0287
a0001c0001t0127g0215
a0001c0002t0001g0106
a0001c0002t0002g0039
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0068
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0002t0037g0048
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0105g0092
a0001c0002t0110g0033
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0051g0136
a0002c0003t0054g0141
a0007c0010t0003g0298
a0009c0008t0021g0267
 64 HG00423.hp2
HG00438.hp2
HG00673.hp2
others(61): Show 
HG00423.hp2
HG00438.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01361.hp2
HG01496.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG02004.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02258.hp1
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG03098.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04204.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18969.hp2
NA18977.hp2
NA18993.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19066.hp2
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19088.hp1
NA20300.hp1
 intron_variant MODIFIER c.1547+2682_1547+268
others(6): Show 
c.1547+2682_1547+2683dupAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 G
G
 GCACA
GCACA
 12 a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0216
others(9): Show 
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0216
a0001c0001t0003g0211
a0001c0001t0003g0280
a0001c0001t0003g0309
a0001c0001t0003g0326
a0001c0001t0004g0295
a0001c0001t0014g0292
a0001c0001t0024g0307
a0001c0001t0056g0312
a0001c0002t0002g0090
 12 HG00621.hp1
HG01258.hp2
HG01346.hp2
others(9): Show 
HG00621.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp2
HG01928.hp2
HG03491.hp1
NA18940.hp2
NA18975.hp2
NA19062.hp1
NA19065.hp2
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1547+2680_1547+268
others(8): Show 
c.1547+2680_1547+2683dupACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 G
G
 GCACACA
GCACACA
 4 a0001c0001t0001g0208
a0001c0001t0007g0195
a0001c0001t0043g0308
others(1): Show 
a0001c0001t0001g0208
a0001c0001t0007g0195
a0001c0001t0043g0308
a0001c0002t0002g0044
 4 HG03942.hp1
HG04204.hp2
NA18989.hp1
others(1): Show 
HG03942.hp1
HG04204.hp2
NA18989.hp1
NA18989.hp2
 intron_variant MODIFIER c.1547+2678_1547+268
others(10): Show 
c.1547+2678_1547+2683dupACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 GCA
GCA
 G
G
 30 a0001c0001t0001g0192
a0001c0001t0001g0210
a0001c0001t0003g0274
others(27): Show 
a0001c0001t0001g0192
a0001c0001t0001g0210
a0001c0001t0003g0274
a0001c0001t0003g0283
a0001c0001t0004g0236
a0001c0001t0004g0245
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0083
a0001c0001t0012g0149
a0001c0001t0014g0291
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0042g0355
a0001c0001t0058g0255
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0074g0011
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0098g0257
a0001c0002t0002g0049
a0001c0002t0005g0075
a0001c0002t0005g0102
a0001c0002t0109g0060
a0002c0003t0089g0143
 30 HG00673.hp1
HG01071.hp2
HG01255.hp2
others(27): Show 
HG00673.hp1
HG01071.hp2
HG01255.hp2
HG01433.hp1
HG01517.hp1
HG01993.hp2
HG02040.hp1
HG02071.hp2
HG02083.hp1
HG02630.hp1
HG02886.hp1
HG02976.hp1
HG03225.hp2
HG03516.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
NA18612.hp1
NA18962.hp1
NA18973.hp1
NA18982.hp1
NA18991.hp2
NA18998.hp2
NA19004.hp1
NA19007.hp2
NA19065.hp1
NA19083.hp2
NA19084.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.1547+2682_1547+268
others(6): Show 
c.1547+2682_1547+2683delAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 GCACA
GCACA
 G
G
 46 a0001c0001t0001g0160
a0001c0001t0001g0203
a0001c0001t0001g0243
others(43): Show 
a0001c0001t0001g0160
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0017g0288
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0091g0225
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0106g0176
a0001c0002t0002g0001
a0001c0002t0002g0043
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0055
a0001c0002t0002g0061
a0001c0002t0004g0085
a0001c0002t0111g0046
a0002c0003t0006g0139
a0002c0003t0011g0120
a0008c0014t0133g0008
 47 HG00438.hp1
HG01081.hp1
HG01109.hp1
others(44): Show 
HG00438.hp1
HG01081.hp1
HG01109.hp1
HG01255.hp1
HG02027.hp2
HG02080.hp2
HG02129.hp2
HG02165.hp2
HG02280.hp1
HG02602.hp2
HG02818.hp2
HG02976.hp2
HG03139.hp2
HG03471.hp1
HG03471.hp2
NA18941.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19058.hp2
NA19064.hp1
NA19068.hp2
NA19080.hp2
NA19084.hp1
NA19086.hp1
NA19086.hp2
NA19090.hp2
NA19091.hp2
 intron_variant MODIFIER c.1547+2680_1547+268
others(8): Show 
c.1547+2680_1547+2683delACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 GCACACA
GCACACA
 G
G
 33 a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0073g0259
others(30): Show 
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0134g0233
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0005c0015t0011g0023
 35 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(32): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03195.hp1
HG03834.hp2
HG04199.hp1
HG04228.hp2
NA18612.hp2
NA18948.hp1
NA18952.hp1
NA18970.hp1
NA18978.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19081.hp2
 intron_variant MODIFIER c.1547+2678_1547+268
others(10): Show 
c.1547+2678_1547+2683delACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 GCACACAC
others(3): Show 
GCACACACACA
 G
G
 2 a0001c0002t0002g0034
a0002c0003t0006g0140
a0001c0002t0002g0034
a0002c0003t0006g0140
 2 HG02300.hp2
NA19082.hp2
HG02300.hp2
NA19082.hp2
 intron_variant MODIFIER c.1547+2674_1547+268
others(14): Show 
c.1547+2674_1547+2683delACACACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 GCACACAC
others(5): Show 
GCACACACACACA
 G
G
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1547+2672_1547+268
others(16): Show 
c.1547+2672_1547+2683delACACACACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 GCACACAC
others(9): Show 
GCACACACACACACACA
 G
G
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1547+2668_1547+268
others(20): Show 
c.1547+2668_1547+2683delACACACACACACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144005 GCACACAC
others(11): Show 
GCACACACACACACACACA
 G
G
 1 a0001c0002t0005g0031
a0001c0002t0005g0031
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1547+2666_1547+268
others(22): Show 
c.1547+2666_1547+2683delACACACACACACACACAC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55144005
chr17:55144007 A
A
 G
G
 17 a0001c0001t0009g0017
a0001c0001t0009g0019
a0001c0001t0009g0020
others(14): Show 
a0001c0001t0009g0017
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0069g0272
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0081g0108
a0001c0001t0090g0012
 17 HG02257.hp2
HG02559.hp2
HG02647.hp2
others(14): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+2640A>G
c.1547+2640A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144007
chr17:55144009 A
A
 G
G
 11 a0001c0001t0004g0236
a0001c0001t0004g0245
a0001c0001t0012g0149
others(8): Show 
a0001c0001t0004g0236
a0001c0001t0004g0245
a0001c0001t0012g0149
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0062g0246
a0001c0001t0064g0016
a0001c0001t0074g0011
a0001c0001t0093g0237
a0001c0001t0095g0329
a0002c0003t0089g0143
 11 HG00673.hp1
HG02083.hp1
HG02630.hp1
others(8): Show 
HG00673.hp1
HG02083.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG03225.hp2
HG03516.hp2
HG04115.hp1
NA19065.hp1
NA19083.hp2
NA19240.hp2
 intron_variant MODIFIER c.1547+2642A>G
c.1547+2642A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144009
chr17:55144011 A
A
 G
G
 37 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(34): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0002t0004g0085
a0002c0003t0006g0139
a0002c0003t0011g0120
 37 HG00673.hp1
HG01109.hp1
HG01255.hp1
others(34): Show 
HG00673.hp1
HG01109.hp1
HG01255.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02280.hp1
HG02602.hp2
HG02630.hp1
HG02976.hp2
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1547+2644A>G
c.1547+2644A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144011
chr17:55144013 A
A
 G
G
 60 a0001c0001t0001g0243
a0001c0001t0004g0238
a0001c0001t0004g0240
others(57): Show 
a0001c0001t0001g0243
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0073g0259
a0001c0001t0078g0234
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0097g0222
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0005c0015t0011g0023
 62 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(59): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp2
HG02602.hp2
HG02622.hp2
HG02886.hp2
HG02976.hp2
HG03195.hp1
HG03471.hp2
HG03834.hp2
HG04199.hp1
HG04228.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.1547+2646A>G
c.1547+2646A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144013
chr17:55144017 A
A
 G
G
 1 a0002c0003t0006g0140
a0002c0003t0006g0140
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.1547+2650A>G
c.1547+2650A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144017
chr17:55144050 C
C
 T
T
 1 a0001c0001t0009g0020
a0001c0001t0009g0020
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1547+2683C>T
c.1547+2683C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144050
chr17:55144392 A
A
 G
G
 1 a0001c0001t0114g0026
a0001c0001t0114g0026
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1547+3025A>G
c.1547+3025A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144392
chr17:55144496 C
C
 T
T
 2 a0003c0006t0092g0113
a0003c0006t0094g0022
a0003c0006t0092g0113
a0003c0006t0094g0022
 2 HG02486.hp1
HG03579.hp2
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1547+3129C>T
c.1547+3129C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144496
chr17:55144532 T
T
 C
C
 3 a0002c0003t0006g0135
a0002c0003t0089g0143
a0005c0015t0011g0023
a0002c0003t0006g0135
a0002c0003t0089g0143
a0005c0015t0011g0023
 3 HG04115.hp1
NA18612.hp2
NA19067.hp2
HG04115.hp1
NA18612.hp2
NA19067.hp2
 intron_variant MODIFIER c.1547+3165T>C
c.1547+3165T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144532
chr17:55144646 G
G
 A
A
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1547+3279G>A
c.1547+3279G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144646
chr17:55144918 A
A
 G
G
 46 a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
others(43): Show 
a0001c0001t0001g0006
a0001c0001t0001g0155
a0001c0001t0001g0159
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0173
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0235
a0001c0001t0007g0151
a0001c0001t0007g0152
a0001c0001t0007g0162
a0001c0001t0007g0179
a0001c0001t0007g0181
a0001c0001t0007g0212
a0001c0001t0007g0213
a0001c0001t0007g0214
a0001c0001t0007g0348
a0001c0001t0035g0005
a0001c0001t0035g0167
a0001c0001t0036g0153
a0001c0001t0036g0154
a0001c0001t0101g0005
a0001c0001t0106g0176
a0001c0001t0119g0148
a0001c0001t0120g0184
a0001c0001t0122g0150
a0001c0001t0124g0177
a0001c0001t0129g0161
a0001c0002t0001g0094
a0001c0011t0001g0156
a0006c0013t0001g0182
 47 HG00423.hp1
HG00438.hp1
HG00558.hp1
others(44): Show 
HG00423.hp1
HG00438.hp1
HG00558.hp1
HG00639.hp2
HG00738.hp2
HG01070.hp2
HG01243.hp2
HG01261.hp2
HG01934.hp1
HG01952.hp2
HG02056.hp1
HG02080.hp1
HG02129.hp1
HG02155.hp1
NA18940.hp2
NA18948.hp1
NA18952.hp2
NA18955.hp1
NA18957.hp2
NA18964.hp1
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18980.hp2
NA18981.hp2
NA18986.hp1
NA18991.hp1
NA18993.hp2
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19070.hp2
NA19074.hp2
NA19075.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1547+3551A>G
c.1547+3551A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55144918
chr17:55145253 T
T
 A
A
 1 a0001c0001t0007g0195
a0001c0001t0007g0195
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1547+3886T>A
c.1547+3886T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55145253
chr17:55145296 C
C
 T
T
 2 a0001c0002t0002g0001
a0001c0002t0002g0061
a0001c0002t0002g0001
a0001c0002t0002g0061
 3 NA18948.hp2
NA19084.hp1
NA19086.hp2
NA18948.hp2
NA19084.hp1
NA19086.hp2
 intron_variant MODIFIER c.1547+3929C>T
c.1547+3929C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55145296
chr17:55145513 G
G
 A
A
 102 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(99): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0008c0014t0133g0008
 104 HG00099.hp2
HG00558.hp2
HG00673.hp1
others(101): Show 
HG00099.hp2
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+4146G>A
c.1547+4146G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55145513
chr17:55145559 C
C
 T
T
 102 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(99): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0008c0014t0133g0008
 104 HG00099.hp2
HG00558.hp2
HG00673.hp1
others(101): Show 
HG00099.hp2
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+4192C>T
c.1547+4192C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55145559
chr17:55145667 T
T
 C
C
 2 a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0005g0104
a0001c0002t0005g0105
 2 HG01106.hp2
HG02148.hp2
HG01106.hp2
HG02148.hp2
 intron_variant MODIFIER c.1547+4300T>C
c.1547+4300T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55145667
chr17:55145677 G
G
 A
A
 1 a0001c0001t0004g0236
a0001c0001t0004g0236
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.1547+4310G>A
c.1547+4310G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55145677
chr17:55145713 A
A
 T
T
 5 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(2): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0080g0114
 5 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(2): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.1547+4346A>T
c.1547+4346A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55145713
chr17:55145735 C
C
 CTG
CTG
 3 a0001c0001t0058g0255
a0003c0006t0092g0113
a0003c0006t0094g0022
a0001c0001t0058g0255
a0003c0006t0092g0113
a0003c0006t0094g0022
 3 HG01433.hp1
HG02486.hp1
HG03579.hp2
HG01433.hp1
HG02486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1547+4382_1547+438
others(6): Show 
c.1547+4382_1547+4383dupGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55145735
chr17:55145735 C
C
 CTGTG
CTGTG
 70 a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0114g0026
others(67): Show 
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0114g0026
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 72 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(69): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03491.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19054.hp1
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1547+4380_1547+438
others(8): Show 
c.1547+4380_1547+4383dupGTGT
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55145735
chr17:55146134 G
G
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1547+4767G>A
c.1547+4767G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146134
chr17:55146355 C
C
 G
G
 1 a0001c0001t0003g0326
a0001c0001t0003g0326
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1547+4988C>G
c.1547+4988C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146355
chr17:55146365 G
G
 T
T
 3 a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
 3 HG02809.hp2
HG02970.hp2
HG03139.hp1
HG02809.hp2
HG02970.hp2
HG03139.hp1
 intron_variant MODIFIER c.1547+4998G>T
c.1547+4998G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146365
chr17:55146434 G
G
 A
A
 1 a0005c0015t0011g0023
a0005c0015t0011g0023
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.1547+5067G>A
c.1547+5067G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146434
chr17:55146461 C
C
 A
A
 85 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(82): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0007c0010t0003g0298
 86 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(83): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1547+5094C>A
c.1547+5094C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146461
chr17:55146486 C
C
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1547+5119C>T
c.1547+5119C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146486
chr17:55146528 G
G
 A
A
 1 a0001c0001t0018g0224
a0001c0001t0018g0224
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.1547+5161G>A
c.1547+5161G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146528
chr17:55146612 G
G
 C
C
 2 a0001c0002t0005g0089
a0001c0002t0112g0086
a0001c0002t0005g0089
a0001c0002t0112g0086
 2 HG00639.hp1
HG00733.hp2
HG00639.hp1
HG00733.hp2
 intron_variant MODIFIER c.1547+5245G>C
c.1547+5245G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146612
chr17:55146637 T
T
 A
A
 103 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(100): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0008c0014t0133g0008
 105 HG00099.hp2
HG00558.hp2
HG00673.hp1
others(102): Show 
HG00099.hp2
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+5270T>A
c.1547+5270T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146637
chr17:55146726 GA
GA
 G
G
 102 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(99): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0008c0014t0133g0008
 104 HG00099.hp2
HG00558.hp2
HG00673.hp1
others(101): Show 
HG00099.hp2
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+5371delA
c.1547+5371delA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55146726
chr17:55146737 A
A
 G
G
 5 a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
others(2): Show 
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0075g0271
a0001c0001t0080g0114
 5 HG02559.hp2
HG02965.hp2
HG03098.hp2
others(2): Show 
HG02559.hp2
HG02965.hp2
HG03098.hp2
HG03486.hp2
HG03516.hp1
 intron_variant MODIFIER c.1547+5370A>G
c.1547+5370A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146737
chr17:55146994 G
G
 A
A
 1 a0001c0001t0017g0288
a0001c0001t0017g0288
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.1547+5627G>A
c.1547+5627G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55146994
chr17:55147015 C
C
 G
G
 1 a0001c0002t0002g0070
a0001c0002t0002g0070
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.1547+5648C>G
c.1547+5648C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147015
chr17:55147190 G
G
 C
C
 1 a0001c0001t0014g0292
a0001c0001t0014g0292
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1547+5823G>C
c.1547+5823G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147190
chr17:55147242 G
G
 C
C
 16 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(13): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0081g0108
a0001c0001t0090g0012
 16 HG02257.hp2
HG02647.hp1
HG02717.hp1
others(13): Show 
HG02257.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+5875G>C
c.1547+5875G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147242
chr17:55147288 C
C
 A
A
 1 a0001c0001t0010g0322
a0001c0001t0010g0322
 1 NA18993.hp1
NA18993.hp1
 intron_variant MODIFIER c.1547+5921C>A
c.1547+5921C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147288
chr17:55147398 C
C
 T
T
 110 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(107): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0008c0014t0133g0008
 112 HG00099.hp2
HG00558.hp2
HG00673.hp1
others(109): Show 
HG00099.hp2
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18941.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+6031C>T
c.1547+6031C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147398
chr17:55147487 C
C
 T
T
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1547+6120C>T
c.1547+6120C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147487
chr17:55147589 T
T
 C
C
 1 a0003c0004t0020g0276
a0003c0004t0020g0276
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1547+6222T>C
c.1547+6222T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147589
chr17:55147656 A
A
 G
G
 85 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(82): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0007c0010t0003g0298
 86 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(83): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1547+6289A>G
c.1547+6289A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147656
chr17:55147805 C
C
 T
T
 1 a0001c0002t0002g0041
a0001c0002t0002g0041
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1547+6438C>T
c.1547+6438C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147805
chr17:55147880 T
T
 A
A
 7 a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
others(4): Show 
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
 7 NA18941.hp1
NA18962.hp1
NA18973.hp1
others(4): Show 
NA18941.hp1
NA18962.hp1
NA18973.hp1
NA18991.hp2
NA19004.hp1
NA19056.hp1
NA19063.hp1
 intron_variant MODIFIER c.1547+6513T>A
c.1547+6513T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55147880
chr17:55148023 CAAAAT
CAAAAT
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1547+6660_1547+666
others(9): Show 
c.1547+6660_1547+6664delATAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55148023
chr17:55148126 G
G
 T
T
 14 a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
others(11): Show 
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0031g0261
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0131g0264
 14 HG01243.hp1
HG02055.hp1
HG02109.hp2
others(11): Show 
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02622.hp1
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1547+6759G>T
c.1547+6759G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55148126
chr17:55148730 G
G
 A
A
 2 a0001c0001t0001g0006
a0001c0001t0001g0180
a0001c0001t0001g0006
a0001c0001t0001g0180
 3 NA18952.hp2
NA18969.hp1
NA19058.hp1
NA18952.hp2
NA18969.hp1
NA19058.hp1
 intron_variant MODIFIER c.1547+7363G>A
c.1547+7363G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55148730
chr17:55148749 G
G
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1547+7382G>T
c.1547+7382G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55148749
chr17:55149020 G
G
 T
T
 1 a0002c0003t0011g0120
a0002c0003t0011g0120
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1547+7653G>T
c.1547+7653G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55149020
chr17:55149142 C
C
 T
T
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.1547+7775C>T
c.1547+7775C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55149142
chr17:55149236 T
T
 A
A
 1 a0001c0001t0003g0327
a0001c0001t0003g0327
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1547+7869T>A
c.1547+7869T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55149236
chr17:55149261 G
G
 A
A
 101 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(98): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 103 HG00099.hp2
HG00558.hp2
HG00673.hp1
others(100): Show 
HG00099.hp2
HG00558.hp2
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18941.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18999.hp1
NA19004.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+7894G>A
c.1547+7894G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55149261
chr17:55149354 TCAGA
TCAGA
 T
T
 77 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(74): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0007c0010t0003g0298
 78 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(75): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18993.hp1
NA19002.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1547+7992_1547+799
others(8): Show 
c.1547+7992_1547+7995delCAGA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55149354
chr17:55149519 A
A
 G
G
 1 a0002c0003t0011g0120
a0002c0003t0011g0120
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1547+8152A>G
c.1547+8152A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55149519
chr17:55149578 C
C
 T
T
 9 a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
others(6): Show 
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0022g0358
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0042g0355
a0001c0001t0050g0360
 9 HG02109.hp1
HG02451.hp1
HG02615.hp2
others(6): Show 
HG02109.hp1
HG02451.hp1
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.1547+8211C>T
c.1547+8211C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55149578
chr17:55149643 A
A
 C
C
 1 a0001c0001t0025g0007
a0001c0001t0025g0007
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1547+8276A>C
c.1547+8276A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55149643
chr17:55149809 T
T
 A
A
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1547+8442T>A
c.1547+8442T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55149809
chr17:55150083 A
A
 G
G
 85 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(82): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0007c0010t0003g0298
 86 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(83): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01175.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG03041.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1547+8716A>G
c.1547+8716A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150083
chr17:55150110 T
T
 C
C
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1547+8743T>C
c.1547+8743T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150110
chr17:55150152 C
C
 T
T
 1 a0001c0002t0005g0095
a0001c0002t0005g0095
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1547+8785C>T
c.1547+8785C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150152
chr17:55150192 G
G
 A
A
 23 a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
others(20): Show 
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
 23 HG02257.hp2
HG02559.hp2
HG02647.hp1
others(20): Show 
HG02257.hp2
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1547+8825G>A
c.1547+8825G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150192
chr17:55150321 G
G
 T
T
 1 a0001c0001t0007g0348
a0001c0001t0007g0348
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.1547+8954G>T
c.1547+8954G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150321
chr17:55150494 T
T
 C
C
 2 a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0039g0032
a0001c0002t0039g0037
 2 HG02258.hp1
HG02451.hp2
HG02258.hp1
HG02451.hp2
 intron_variant MODIFIER c.1547+9127T>C
c.1547+9127T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150494
chr17:55150506 C
C
 T
T
 5 a0001c0001t0002g0344
a0001c0002t0002g0035
a0001c0002t0002g0053
others(2): Show 
a0001c0001t0002g0344
a0001c0002t0002g0035
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0008g0038
 5 NA18942.hp2
NA18947.hp2
NA18992.hp1
others(2): Show 
NA18942.hp2
NA18947.hp2
NA18992.hp1
NA19009.hp1
NA19066.hp2
 intron_variant MODIFIER c.1547+9139C>T
c.1547+9139C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150506
chr17:55150638 T
T
 G
G
 1 a0002c0003t0016g0004
a0002c0003t0016g0004
 2 HG01928.hp1
HG01993.hp1
HG01928.hp1
HG01993.hp1
 intron_variant MODIFIER c.1548-9159T>G
c.1548-9159T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150638
chr17:55150698 G
G
 A
A
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1548-9099G>A
c.1548-9099G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150698
chr17:55150715 G
G
 C
C
 23 a0001c0001t0031g0269
a0001c0001t0132g0268
a0003c0004t0013g0260
others(20): Show 
a0001c0001t0031g0269
a0001c0001t0132g0268
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0009c0008t0021g0267
 23 HG01081.hp2
HG01243.hp1
HG02055.hp1
others(20): Show 
HG01081.hp2
HG01243.hp1
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1548-9082G>C
c.1548-9082G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150715
chr17:55150792 C
C
 T
T
 1 a0003c0006t0092g0113
a0003c0006t0092g0113
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1548-9005C>T
c.1548-9005C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150792
chr17:55150887 A
A
 G
G
 110 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(107): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 111 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(108): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1548-8910A>G
c.1548-8910A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150887
chr17:55150936 C
C
 T
T
 1 a0003c0004t0013g0266
a0003c0004t0013g0266
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1548-8861C>T
c.1548-8861C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150936
chr17:55150994 C
C
 T
T
 68 a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0114g0026
others(65): Show 
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0114g0026
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
 70 HG00280.hp1
HG00621.hp2
HG00639.hp1
others(67): Show 
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01517.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02559.hp1
HG02572.hp1
HG02683.hp2
HG02698.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03225.hp1
HG03490.hp2
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18989.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19054.hp1
NA19060.hp2
NA19063.hp2
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1548-8803C>T
c.1548-8803C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55150994
chr17:55151182 A
A
 G
G
 104 a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
others(101): Show 
a0001c0001t0001g0243
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0134g0233
a0001c0002t0004g0085
a0001c0012t0100g0275
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0008c0014t0133g0008
 106 HG00099.hp2
HG00558.hp2
HG00673.hp1
others(103): Show 
HG00099.hp2
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19064.hp1
NA19065.hp1
NA19067.hp2
NA19074.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.1548-8615A>G
c.1548-8615A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55151182
chr17:55151449 G
G
 C
C
 1 a0002c0003t0004g0124
a0002c0003t0004g0124
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1548-8348G>C
c.1548-8348G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55151449
chr17:55151508 A
A
 C
C
 110 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(107): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0082g0334
a0001c0001t0132g0268
a0001c0002t0003g0069
a0001c0002t0024g0071
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0009t0003g0297
a0002c0003t0003g0286
a0002c0003t0051g0136
a0002c0003t0054g0141
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0007c0010t0003g0298
a0009c0008t0021g0267
 111 HG00280.hp2
HG00423.hp2
HG00438.hp2
others(108): Show 
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01258.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18953.hp2
NA18962.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18977.hp2
NA18982.hp1
NA18983.hp1
NA18991.hp2
NA18993.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19075.hp2
NA19080.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1548-8289A>C
c.1548-8289A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55151508
chr17:55151664 G
G
 T
T
 3 a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 3 HG02615.hp1
HG02818.hp2
HG02922.hp2
HG02615.hp1
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1548-8133G>T
c.1548-8133G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55151664
chr17:55151697 G
G
 C
C
 2 a0001c0001t0031g0269
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0132g0268
 2 HG02280.hp2
HG02965.hp1
HG02280.hp2
HG02965.hp1
 intron_variant MODIFIER c.1548-8100G>C
c.1548-8100G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55151697
chr17:55151864 A
A
 G
G
 1 a0001c0001t0001g0180
a0001c0001t0001g0180
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.1548-7933A>G
c.1548-7933A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55151864
chr17:55151984 A
A
 G
G
 193 a0001c0001t0001g0175
a0001c0001t0001g0243
a0001c0001t0003g0211
others(190): Show 
a0001c0001t0001g0175
a0001c0001t0001g0243
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0007g0081
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0116g0287
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0011t0001g0156
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0021g0331
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 196 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(193): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1548-7813A>G
c.1548-7813A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55151984
chr17:55152040 T
T
 G
G
 4 a0001c0001t0134g0233
a0004c0007t0020g0009
a0004c0007t0020g0010
others(1): Show 
a0001c0001t0134g0233
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 4 HG02615.hp1
HG02622.hp2
HG02818.hp2
others(1): Show 
HG02615.hp1
HG02622.hp2
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1548-7757T>G
c.1548-7757T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55152040
chr17:55152149 T
T
 C
C
 2 a0001c0001t0031g0269
a0001c0001t0132g0268
a0001c0001t0031g0269
a0001c0001t0132g0268
 2 HG02280.hp2
HG02965.hp1
HG02280.hp2
HG02965.hp1
 intron_variant MODIFIER c.1548-7648T>C
c.1548-7648T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55152149
chr17:55152219 C
C
 T
T
 2 a0003c0004t0021g0331
a0009c0008t0021g0267
a0003c0004t0021g0331
a0009c0008t0021g0267
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 intron_variant MODIFIER c.1548-7578C>T
c.1548-7578C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55152219
chr17:55152431 G
G
 A
A
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1548-7366G>A
c.1548-7366G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55152431
chr17:55152578 C
C
 T
T
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1548-7219C>T
c.1548-7219C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55152578
chr17:55152959 C
C
 T
T
 26 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(23): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
 26 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(23): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.1548-6838C>T
c.1548-6838C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55152959
chr17:55153204 G
G
 C
C
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1548-6593G>C
c.1548-6593G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153204
chr17:55153248 A
A
 C
C
 4 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(1): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
 4 HG00673.hp2
HG01433.hp1
NA18963.hp2
others(1): Show 
HG00673.hp2
HG01433.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1548-6549A>C
c.1548-6549A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153248
chr17:55153361 A
A
 G
G
 191 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(188): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0009t0003g0297
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0006t0092g0113
a0003c0006t0094g0022
a0005c0015t0011g0023
a0007c0010t0003g0298
 194 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(191): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-6436A>G
c.1548-6436A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153361
chr17:55153373 A
A
 G
G
 215 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(212): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 218 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(215): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-6424A>G
c.1548-6424A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153373
chr17:55153521 TGATA
TGATA
 T
T
 5 a0001c0001t0033g0356
a0001c0001t0033g0357
a0002c0003t0011g0131
others(2): Show 
a0001c0001t0033g0356
a0001c0001t0033g0357
a0002c0003t0011g0131
a0003c0006t0092g0113
a0003c0006t0094g0022
 5 HG02486.hp1
HG03041.hp1
HG03453.hp2
others(2): Show 
HG02486.hp1
HG03041.hp1
HG03453.hp2
HG03579.hp2
NA18978.hp1
 intron_variant MODIFIER c.1548-6271_1548-626
others(8): Show 
c.1548-6271_1548-6268delGATA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55153521
chr17:55153560 G
G
 GA
GA
 212 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(209): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 215 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(212): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-6232dupA
c.1548-6232dupA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55153560
chr17:55153638 A
A
 G
G
 1 a0001c0001t0012g0149
a0001c0001t0012g0149
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1548-6159A>G
c.1548-6159A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153638
chr17:55153751 C
C
 T
T
 1 a0001c0001t0007g0217
a0001c0001t0007g0217
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1548-6046C>T
c.1548-6046C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153751
chr17:55153776 G
G
 A
A
 190 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(187): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0009t0003g0297
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0006t0092g0113
a0003c0006t0094g0022
a0005c0015t0011g0023
a0007c0010t0003g0298
 193 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(190): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-6021G>A
c.1548-6021G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153776
chr17:55153802 T
T
 C
C
 1 a0001c0012t0100g0275
a0001c0012t0100g0275
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1548-5995T>C
c.1548-5995T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153802
chr17:55153851 T
T
 C
C
 1 a0001c0001t0002g0344
a0001c0001t0002g0344
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1548-5946T>C
c.1548-5946T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153851
chr17:55153870 A
A
 G
G
 213 a0001c0001t0001g0206
a0001c0001t0003g0211
a0001c0001t0003g0274
others(210): Show 
a0001c0001t0001g0206
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-5927A>G
c.1548-5927A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55153870
chr17:55154061 C
C
 A
A
 3 a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.1548-5736C>A
c.1548-5736C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154061
chr17:55154190 G
G
 A
A
 1 a0002c0003t0065g0121
a0002c0003t0065g0121
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1548-5607G>A
c.1548-5607G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154190
chr17:55154358 C
C
 G
G
 2 a0003c0004t0021g0331
a0009c0008t0021g0267
a0003c0004t0021g0331
a0009c0008t0021g0267
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 intron_variant MODIFIER c.1548-5439C>G
c.1548-5439C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154358
chr17:55154427 A
A
 G
G
 215 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(212): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 218 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(215): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-5370A>G
c.1548-5370A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154427
chr17:55154480 G
G
 A
A
 212 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(209): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 215 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(212): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-5317G>A
c.1548-5317G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154480
chr17:55154587 C
C
 G
G
 3 a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.1548-5210C>G
c.1548-5210C>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154587
chr17:55154611 A
A
 G
G
 3 a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.1548-5186A>G
c.1548-5186A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154611
chr17:55154675 T
T
 C
C
 215 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(212): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 218 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(215): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-5122T>C
c.1548-5122T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154675
chr17:55154716 A
A
 C
C
 1 a0001c0001t0017g0368
a0001c0001t0017g0368
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1548-5081A>C
c.1548-5081A>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154716
chr17:55154830 T
T
 G
G
 3 a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.1548-4967T>G
c.1548-4967T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154830
chr17:55154957 C
C
 T
T
 3 a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0001t0096g0062
a0001c0002t0039g0032
a0001c0002t0039g0037
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.1548-4840C>T
c.1548-4840C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55154957
chr17:55155037 A
A
 G
G
 1 a0003c0004t0028g0361
a0003c0004t0028g0361
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1548-4760A>G
c.1548-4760A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155037
chr17:55155064 C
C
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1548-4733C>T
c.1548-4733C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155064
chr17:55155095 C
C
 T
T
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1548-4702C>T
c.1548-4702C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155095
chr17:55155233 A
A
 G
G
 212 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(209): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 215 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(212): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-4564A>G
c.1548-4564A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155233
chr17:55155303 G
G
 C
C
 15 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(12): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0097g0222
 15 HG01109.hp1
HG02280.hp1
HG02630.hp1
others(12): Show 
HG01109.hp1
HG02280.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
NA19083.hp2
 intron_variant MODIFIER c.1548-4494G>C
c.1548-4494G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155303
chr17:55155386 G
G
 A
A
 26 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(23): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
 26 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(23): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.1548-4411G>A
c.1548-4411G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155386
chr17:55155478 T
T
 G
G
 285 a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
others(282): Show 
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0005g0193
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0114g0026
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0044
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0100
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0005t0005g0024
a0001c0005t0005g0025
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 290 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(287): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.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
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19062.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1548-4319T>G
c.1548-4319T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155478
chr17:55155510 A
A
 AC
AC
 17 a0001c0001t0001g0235
a0001c0001t0007g0195
a0001c0001t0043g0308
others(14): Show 
a0001c0001t0001g0235
a0001c0001t0007g0195
a0001c0001t0043g0308
a0001c0001t0061g0239
a0001c0001t0067g0337
a0001c0001t0103g0157
a0001c0001t0106g0176
a0002c0003t0006g0258
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0079g0127
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0077g0363
a0005c0015t0011g0023
 17 HG01081.hp2
HG01109.hp2
HG01123.hp2
others(14): Show 
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01517.hp2
HG02040.hp2
HG02056.hp2
HG02129.hp1
HG02257.hp1
HG02723.hp1
HG02896.hp1
HG03540.hp2
HG03942.hp1
HG04204.hp2
NA18991.hp2
NA19067.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.1548-4277dupC
c.1548-4277dupC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55155510
chr17:55155510 AC
AC
 A
A
 89 a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0289
others(86): Show 
a0001c0001t0002g0168
a0001c0001t0002g0344
a0001c0001t0003g0289
a0001c0001t0004g0236
a0001c0001t0005g0193
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0078g0234
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0114g0026
a0001c0001t0120g0184
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0002g0001
a0001c0002t0002g0002
a0001c0002t0002g0030
a0001c0002t0002g0034
a0001c0002t0002g0035
a0001c0002t0002g0036
a0001c0002t0002g0039
a0001c0002t0002g0041
a0001c0002t0002g0043
a0001c0002t0002g0049
a0001c0002t0002g0050
a0001c0002t0002g0051
a0001c0002t0002g0052
a0001c0002t0002g0053
a0001c0002t0002g0054
a0001c0002t0002g0055
a0001c0002t0002g0058
a0001c0002t0002g0059
a0001c0002t0002g0061
a0001c0002t0002g0063
a0001c0002t0002g0064
a0001c0002t0002g0065
a0001c0002t0002g0066
a0001c0002t0002g0067
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0090
a0001c0002t0002g0107
a0001c0002t0005g0031
a0001c0002t0005g0075
a0001c0002t0005g0078
a0001c0002t0005g0088
a0001c0002t0005g0089
a0001c0002t0005g0091
a0001c0002t0005g0093
a0001c0002t0005g0095
a0001c0002t0005g0096
a0001c0002t0005g0098
a0001c0002t0005g0099
a0001c0002t0005g0101
a0001c0002t0005g0102
a0001c0002t0005g0103
a0001c0002t0005g0104
a0001c0002t0005g0105
a0001c0002t0037g0047
a0001c0002t0037g0048
a0001c0002t0038g0073
a0001c0002t0038g0079
a0001c0002t0102g0056
a0001c0002t0104g0077
a0001c0002t0105g0092
a0001c0002t0107g0045
a0001c0002t0108g0097
a0001c0002t0109g0060
a0001c0002t0110g0033
a0001c0002t0111g0046
a0001c0002t0112g0086
a0001c0002t0113g0087
a0001c0002t0125g0042
a0001c0002t0126g0072
a0001c0002t0128g0057
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0131g0264
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
a0009c0008t0021g0267
 91 HG00099.hp1
HG00280.hp1
HG00621.hp2
others(88): Show 
HG00099.hp1
HG00280.hp1
HG00621.hp2
HG00639.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01169.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01517.hp1
HG01934.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02735.hp2
HG02818.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03540.hp1
HG03688.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18947.hp2
NA18948.hp2
NA18955.hp2
NA18957.hp1
NA18961.hp1
NA18963.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp2
NA18984.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19004.hp2
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp1
NA19081.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1548-4277delC
c.1548-4277delC
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55155510
chr17:55155629 A
A
 G
G
 26 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(23): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
 26 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(23): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.1548-4168A>G
c.1548-4168A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155629
chr17:55155722 A
A
 G
G
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1548-4075A>G
c.1548-4075A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155722
chr17:55155887 T
T
 A
A
 3 a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
 3 HG02976.hp2
HG03471.hp2
NA19030.hp2
HG02976.hp2
HG03471.hp2
NA19030.hp2
 intron_variant MODIFIER c.1548-3910T>A
c.1548-3910T>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55155887
chr17:55156064 T
T
 C
C
 1 a0001c0001t0025g0007
a0001c0001t0025g0007
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.1548-3733T>C
c.1548-3733T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55156064
chr17:55156417 T
T
 C
C
 1 a0002c0003t0011g0118
a0002c0003t0011g0118
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1548-3380T>C
c.1548-3380T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55156417
chr17:55156509 A
A
 G
G
 7 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(4): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0061g0239
 7 NA18961.hp2
NA18975.hp2
NA19002.hp1
others(4): Show 
NA18961.hp2
NA18975.hp2
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19086.hp1
NA19088.hp1
 intron_variant MODIFIER c.1548-3288A>G
c.1548-3288A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55156509
chr17:55156530 T
T
 C
C
 26 a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
others(23): Show 
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0002t0004g0085
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
 26 HG00673.hp1
HG02027.hp2
HG02080.hp2
others(23): Show 
HG00673.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02602.hp2
NA18951.hp1
NA18953.hp1
NA18961.hp2
NA18962.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp2
NA18978.hp2
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.1548-3267T>C
c.1548-3267T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55156530
chr17:55156608 G
G
 A
A
 1 a0001c0001t0078g0234
a0001c0001t0078g0234
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1548-3189G>A
c.1548-3189G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55156608
chr17:55156880 T
T
 TG
TG
 6 a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
others(3): Show 
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0070g0277
a0003c0004t0076g0371
 6 HG01243.hp1
HG02896.hp2
HG02897.hp2
others(3): Show 
HG01243.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1548-2915dupG
c.1548-2915dupG
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55156880
chr17:55157226 A
A
 G
G
 6 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(3): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0012t0100g0275
 6 HG00673.hp2
HG01433.hp1
HG02572.hp2
others(3): Show 
HG00673.hp2
HG01433.hp1
HG02572.hp2
HG03471.hp1
NA18963.hp2
NA18998.hp2
 intron_variant MODIFIER c.1548-2571A>G
c.1548-2571A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157226
chr17:55157232 A
A
 G
G
 1 a0001c0001t0073g0259
a0001c0001t0073g0259
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1548-2565A>G
c.1548-2565A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157232
chr17:55157302 G
G
 C
C
 12 a0001c0001t0132g0268
a0001c0001t0134g0233
a0003c0004t0013g0260
others(9): Show 
a0001c0001t0132g0268
a0001c0001t0134g0233
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0131g0264
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 12 HG02055.hp1
HG02109.hp2
HG02280.hp2
others(9): Show 
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp2
HG02922.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.1548-2495G>C
c.1548-2495G>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157302
chr17:55157340 G
G
 A
A
 2 a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0027g0244
a0001c0001t0027g0249
 2 NA18953.hp1
NA18978.hp2
NA18953.hp1
NA18978.hp2
 intron_variant MODIFIER c.1548-2457G>A
c.1548-2457G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157340
chr17:55157440 G
G
 A
A
 3 a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0012g0228
a0001c0001t0032g0227
a0001c0001t0032g0229
 3 HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
 intron_variant MODIFIER c.1548-2357G>A
c.1548-2357G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157440
chr17:55157473 A
A
 G
G
 2 a0002c0003t0016g0004
a0002c0003t0016g0147
a0002c0003t0016g0004
a0002c0003t0016g0147
 3 HG01928.hp1
HG01993.hp1
HG02273.hp2
HG01928.hp1
HG01993.hp1
HG02273.hp2
 intron_variant MODIFIER c.1548-2324A>G
c.1548-2324A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157473
chr17:55157534 A
A
 G
G
 1 a0001c0001t0009g0110
a0001c0001t0009g0110
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1548-2263A>G
c.1548-2263A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157534
chr17:55157551 A
A
 T
T
 32 a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0087g0117
others(29): Show 
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0087g0117
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 34 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(31): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18978.hp1
NA18982.hp1
NA19067.hp2
NA19084.hp2
 intron_variant MODIFIER c.1548-2246A>T
c.1548-2246A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157551
chr17:55157821 T
T
 C
C
 193 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(190): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0009t0003g0297
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0006t0092g0113
a0003c0006t0094g0022
a0005c0015t0011g0023
a0007c0010t0003g0298
 196 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(193): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-1976T>C
c.1548-1976T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157821
chr17:55157895 C
C
 T
T
 1 a0001c0002t0002g0041
a0001c0002t0002g0041
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1548-1902C>T
c.1548-1902C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157895
chr17:55157918 G
G
 T
T
 1 a0001c0001t0095g0329
a0001c0001t0095g0329
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1548-1879G>T
c.1548-1879G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157918
chr17:55157920 T
T
 G
G
 1 a0001c0001t0095g0329
a0001c0001t0095g0329
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1548-1877T>G
c.1548-1877T>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157920
chr17:55157937 C
C
 A
A
 1 a0001c0001t0087g0117
a0001c0001t0087g0117
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1548-1860C>A
c.1548-1860C>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157937
chr17:55157991 T
T
 C
C
 215 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(212): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0002t0039g0032
a0001c0002t0039g0037
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 218 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(215): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-1806T>C
c.1548-1806T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55157991
chr17:55158002 A
A
 G
G
 8 a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0207
others(5): Show 
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0218
a0001c0001t0121g0190
a0001c0001t0127g0215
a0001c0002t0001g0106
 8 HG02273.hp1
HG02738.hp2
NA18612.hp1
others(5): Show 
HG02273.hp1
HG02738.hp2
NA18612.hp1
NA18989.hp2
NA19000.hp1
NA19002.hp2
NA19054.hp2
NA19079.hp2
 intron_variant MODIFIER c.1548-1795A>G
c.1548-1795A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158002
chr17:55158016 A
A
 T
T
 21 a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
others(18): Show 
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0064g0016
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0003c0006t0092g0113
a0003c0006t0094g0022
 21 HG01109.hp1
HG02280.hp1
HG02486.hp1
others(18): Show 
HG01109.hp1
HG02280.hp1
HG02486.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
NA19083.hp2
NA19240.hp2
 intron_variant MODIFIER c.1548-1781A>T
c.1548-1781A>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158016
chr17:55158336 G
G
 T
T
 1 a0001c0001t0106g0176
a0001c0001t0106g0176
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.1548-1461G>T
c.1548-1461G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158336
chr17:55158367 A
A
 G
G
 18 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(15): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0131g0264
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 18 HG00673.hp2
HG01433.hp1
HG02055.hp1
others(15): Show 
HG00673.hp2
HG01433.hp1
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp2
HG02922.hp2
HG03041.hp2
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18963.hp2
NA18998.hp2
NA19043.hp1
 intron_variant MODIFIER c.1548-1430A>G
c.1548-1430A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158367
chr17:55158613 A
A
 G
G
 213 a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
others(210): Show 
a0001c0001t0003g0211
a0001c0001t0003g0274
a0001c0001t0003g0280
a0001c0001t0003g0283
a0001c0001t0003g0289
a0001c0001t0003g0294
a0001c0001t0003g0301
a0001c0001t0003g0302
a0001c0001t0003g0303
a0001c0001t0003g0304
a0001c0001t0003g0305
a0001c0001t0003g0309
a0001c0001t0003g0316
a0001c0001t0003g0318
a0001c0001t0003g0321
a0001c0001t0003g0326
a0001c0001t0003g0327
a0001c0001t0003g0328
a0001c0001t0004g0236
a0001c0001t0004g0238
a0001c0001t0004g0240
a0001c0001t0004g0241
a0001c0001t0004g0245
a0001c0001t0004g0247
a0001c0001t0004g0248
a0001c0001t0004g0250
a0001c0001t0004g0251
a0001c0001t0004g0252
a0001c0001t0004g0253
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0295
a0001c0001t0004g0299
a0001c0001t0004g0300
a0001c0001t0004g0325
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0008g0332
a0001c0001t0008g0333
a0001c0001t0008g0338
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0008g0352
a0001c0001t0008g0353
a0001c0001t0008g0354
a0001c0001t0008g0359
a0001c0001t0009g0017
a0001c0001t0009g0018
a0001c0001t0009g0019
a0001c0001t0009g0020
a0001c0001t0009g0110
a0001c0001t0009g0111
a0001c0001t0009g0112
a0001c0001t0010g0270
a0001c0001t0010g0282
a0001c0001t0010g0314
a0001c0001t0010g0320
a0001c0001t0010g0322
a0001c0001t0012g0149
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0014g0290
a0001c0001t0014g0291
a0001c0001t0014g0292
a0001c0001t0014g0336
a0001c0001t0017g0288
a0001c0001t0017g0351
a0001c0001t0017g0368
a0001c0001t0017g0369
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0019g0013
a0001c0001t0019g0014
a0001c0001t0019g0015
a0001c0001t0022g0330
a0001c0001t0022g0358
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0024g0307
a0001c0001t0025g0007
a0001c0001t0026g0311
a0001c0001t0026g0313
a0001c0001t0027g0244
a0001c0001t0027g0249
a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0031g0269
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0040g0335
a0001c0001t0040g0345
a0001c0001t0041g0293
a0001c0001t0042g0355
a0001c0001t0043g0308
a0001c0001t0044g0319
a0001c0001t0045g0350
a0001c0001t0046g0281
a0001c0001t0047g0366
a0001c0001t0048g0346
a0001c0001t0049g0310
a0001c0001t0050g0360
a0001c0001t0052g0315
a0001c0001t0053g0324
a0001c0001t0055g0323
a0001c0001t0056g0312
a0001c0001t0057g0317
a0001c0001t0058g0255
a0001c0001t0060g0242
a0001c0001t0061g0239
a0001c0001t0062g0246
a0001c0001t0063g0040
a0001c0001t0064g0016
a0001c0001t0067g0337
a0001c0001t0068g0339
a0001c0001t0069g0272
a0001c0001t0071g0109
a0001c0001t0072g0273
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0075g0271
a0001c0001t0078g0234
a0001c0001t0080g0114
a0001c0001t0081g0108
a0001c0001t0082g0334
a0001c0001t0087g0117
a0001c0001t0090g0012
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0002t0003g0069
a0001c0002t0004g0085
a0001c0002t0008g0038
a0001c0002t0024g0071
a0001c0009t0003g0297
a0001c0012t0100g0275
a0002c0003t0003g0286
a0002c0003t0004g0122
a0002c0003t0004g0123
a0002c0003t0004g0124
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0051g0136
a0002c0003t0054g0141
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0015g0278
a0003c0004t0015g0279
a0003c0004t0015g0367
a0003c0004t0015g0370
a0003c0004t0020g0276
a0003c0004t0021g0331
a0003c0004t0028g0361
a0003c0004t0028g0364
a0003c0004t0031g0261
a0003c0004t0059g0365
a0003c0004t0066g0362
a0003c0004t0070g0277
a0003c0004t0076g0371
a0003c0004t0077g0363
a0003c0004t0131g0264
a0003c0006t0092g0113
a0003c0006t0094g0022
a0004c0007t0020g0009
a0004c0007t0020g0010
a0005c0015t0011g0023
a0007c0010t0003g0298
a0008c0014t0133g0008
a0009c0008t0021g0267
 216 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(213): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18946.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18981.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19067.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1548-1184A>G
c.1548-1184A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158613
chr17:55158620 C
C
 T
T
 1 a0001c0001t0090g0012
a0001c0001t0090g0012
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1548-1177C>T
c.1548-1177C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158620
chr17:55158621 G
G
 A
A
 32 a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0087g0117
others(29): Show 
a0001c0001t0006g0296
a0001c0001t0006g0306
a0001c0001t0087g0117
a0002c0003t0006g0003
a0002c0003t0006g0119
a0002c0003t0006g0129
a0002c0003t0006g0134
a0002c0003t0006g0135
a0002c0003t0006g0138
a0002c0003t0006g0139
a0002c0003t0006g0140
a0002c0003t0006g0144
a0002c0003t0006g0145
a0002c0003t0006g0258
a0002c0003t0011g0118
a0002c0003t0011g0120
a0002c0003t0011g0131
a0002c0003t0011g0142
a0002c0003t0016g0004
a0002c0003t0016g0130
a0002c0003t0016g0147
a0002c0003t0030g0126
a0002c0003t0030g0128
a0002c0003t0065g0121
a0002c0003t0079g0127
a0002c0003t0083g0132
a0002c0003t0084g0137
a0002c0003t0085g0133
a0002c0003t0086g0146
a0002c0003t0088g0125
a0002c0003t0089g0143
a0005c0015t0011g0023
 34 HG00099.hp2
HG00558.hp2
HG01070.hp1
others(31): Show 
HG00099.hp2
HG00558.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01358.hp1
HG01517.hp2
HG01928.hp1
HG01993.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02886.hp2
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18612.hp2
NA18952.hp1
NA18978.hp1
NA18982.hp1
NA19067.hp2
NA19084.hp2
 intron_variant MODIFIER c.1548-1176G>A
c.1548-1176G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158621
chr17:55158719 G
G
 A
A
 2 a0003c0004t0021g0331
a0009c0008t0021g0267
a0003c0004t0021g0331
a0009c0008t0021g0267
 2 HG02630.hp2
NA19043.hp2
HG02630.hp2
NA19043.hp2
 intron_variant MODIFIER c.1548-1078G>A
c.1548-1078G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158719
chr17:55158954 G
G
 A
A
 18 a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
others(15): Show 
a0001c0001t0034g0254
a0001c0001t0034g0256
a0001c0001t0058g0255
a0001c0001t0098g0257
a0001c0001t0099g0021
a0001c0001t0132g0268
a0001c0001t0134g0233
a0001c0012t0100g0275
a0003c0004t0013g0260
a0003c0004t0013g0262
a0003c0004t0013g0263
a0003c0004t0013g0265
a0003c0004t0013g0266
a0003c0004t0020g0276
a0003c0004t0131g0264
a0004c0007t0020g0009
a0004c0007t0020g0010
a0008c0014t0133g0008
 18 HG00673.hp2
HG01433.hp1
HG02055.hp1
others(15): Show 
HG00673.hp2
HG01433.hp1
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp2
HG02922.hp2
HG03041.hp2
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18963.hp2
NA18998.hp2
NA19043.hp1
 intron_variant MODIFIER c.1548-843G>A
c.1548-843G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55158954
chr17:55159039 G
G
 A
A
 10 a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
others(7): Show 
a0001c0001t0008g0333
a0001c0001t0008g0340
a0001c0001t0008g0341
a0001c0001t0008g0347
a0001c0001t0008g0349
a0001c0001t0022g0330
a0001c0001t0023g0342
a0001c0001t0023g0343
a0001c0001t0048g0346
a0001c0002t0008g0038
 10 NA18942.hp1
NA18946.hp1
NA18968.hp2
others(7): Show 
NA18942.hp1
NA18946.hp1
NA18968.hp2
NA18983.hp1
NA18992.hp1
NA19006.hp1
NA19057.hp1
NA19068.hp1
NA19070.hp1
NA19075.hp2
 intron_variant MODIFIER c.1548-758G>A
c.1548-758G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55159039
chr17:55159064 G
G
 A
A
 1 a0001c0001t0010g0282
a0001c0001t0010g0282
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.1548-733G>A
c.1548-733G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55159064
chr17:55159172 G
G
 T
T
 2 a0001c0001t0029g0115
a0001c0001t0029g0116
a0001c0001t0029g0115
a0001c0001t0029g0116
 2 HG03579.hp1
HG06807.hp1
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.1548-625G>T
c.1548-625G>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55159172
chr17:55159251 C
C
 CATAA
CATAA
 6 a0001c0001t0031g0269
a0001c0001t0073g0259
a0001c0001t0074g0011
others(3): Show 
a0001c0001t0031g0269
a0001c0001t0073g0259
a0001c0001t0074g0011
a0001c0001t0078g0234
a0001c0002t0005g0075
a0003c0004t0031g0261
 6 HG01517.hp1
HG02486.hp2
HG02965.hp1
others(3): Show 
HG01517.hp1
HG02486.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp2
HG04228.hp2
 intron_variant MODIFIER c.1548-524_1548-521d
others(6): Show 
c.1548-524_1548-521dupTAAA
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 INFO_REALIGN_3_PRIME chr17 55159251
chr17:55159252 A
A
 G
G
 1 a0002c0003t0011g0120
a0002c0003t0011g0120
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1548-545A>G
c.1548-545A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55159252
chr17:55159293 T
T
 C
C
 3 a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
a0001c0001t0004g0284
a0001c0001t0004g0285
a0001c0001t0004g0325
 3 NA18968.hp1
NA18983.hp2
NA18986.hp2
NA18968.hp1
NA18983.hp2
NA18986.hp2
 intron_variant MODIFIER c.1548-504T>C
c.1548-504T>C
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55159293
chr17:55159355 G
G
 A
A
 2 a0001c0001t0031g0269
a0003c0004t0031g0261
a0001c0001t0031g0269
a0003c0004t0031g0261
 2 HG02965.hp1
HG02970.hp1
HG02965.hp1
HG02970.hp1
 intron_variant MODIFIER c.1548-442G>A
c.1548-442G>A
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55159355
chr17:55159614 A
A
 G
G
 5 a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
others(2): Show 
a0001c0002t0005g0075
a0001c0002t0005g0076
a0001c0002t0005g0078
a0001c0002t0005g0095
a0001c0002t0104g0077
 5 HG00280.hp1
HG00642.hp2
HG01123.hp1
others(2): Show 
HG00280.hp1
HG00642.hp2
HG01123.hp1
HG01169.hp1
HG01517.hp1
 intron_variant MODIFIER c.1548-183A>G
c.1548-183A>G
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55159614
chr17:55159690 C
C
 T
T
 19 a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
others(16): Show 
a0001c0001t0012g0228
a0001c0001t0012g0230
a0001c0001t0012g0231
a0001c0001t0012g0232
a0001c0001t0018g0221
a0001c0001t0018g0223
a0001c0001t0018g0224
a0001c0001t0018g0226
a0001c0001t0032g0227
a0001c0001t0032g0229
a0001c0001t0033g0356
a0001c0001t0033g0357
a0001c0001t0091g0225
a0001c0001t0093g0237
a0001c0001t0095g0329
a0001c0001t0096g0062
a0001c0001t0097g0222
a0003c0006t0092g0113
a0003c0006t0094g0022
 19 HG01109.hp1
HG02280.hp1
HG02486.hp1
others(16): Show 
HG01109.hp1
HG02280.hp1
HG02486.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp2
NA18951.hp2
NA18963.hp1
NA18973.hp2
NA19006.hp2
NA19030.hp2
NA19058.hp2
NA19083.hp2
 intron_variant MODIFIER c.1548-107C>T
c.1548-107C>T
STXBP4 ENSG00000166263.13 transcript ENST00000376352.6 protein_coding 17/17 chr17 55159690

  • 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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