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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   DEFB124_chr20_31460471_31480127  DEFB124_chr20_31460471_31480127 (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 245937
ensemblid ENSG00000180383.4
hgncid 18104
symbol DEFB124
name defensin beta 124
refseq_nuc NM_001037500.2
refseq_prot NP_001032589.1
ensembl_nuc ENST00000317676.3
ensembl_prot ENSP00000326309.2
mane_status MANE Select
chr chr20
start 31465471
end 31475127
strand -
ver v1.2
region chr20:31465471-31475127
region5000 chr20:31460471-31480127
regionname0 DEFB124_chr20_31465471_31475127
regionname5000 DEFB124_chr20_31460471_31480127

ahapid grch38/
chm13v2
alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 71 356 86 76 132 16 44 92 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
a0002 0/0 71 3 3 0 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
a0003 0/0 71 3 3 0 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127

chapid grch38/
chm13v2
clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 216 356 86 76 132 16 44 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
c0002 0/0 216 3 3 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
c0003 0/0 216 3 3 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127

thapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 562 198 14 49 93 11 30 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
t0002 0/1 562 162 78 27 37 5 14 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
t0003 0/0 562 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127

ghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 48 1 10 29 3 5 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0002 0/0 23 3 4 10 3 3 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0003 0/0 11 1 1 4 0 5 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0004 0/0 9 0 4 4 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0005 0/0 6 0 0 6 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0006 0/0 5 0 0 5 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0007 0/0 5 5 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0008 0/0 5 1 2 1 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0009 0/0 5 0 0 5 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0010 0/0 4 1 3 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0011 0/0 3 0 1 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0012 0/0 3 3 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0013 0/0 3 2 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0014 0/0 3 2 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0015 0/0 3 0 3 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0016 0/0 3 0 2 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0017 0/0 3 0 0 2 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0018 0/0 3 0 1 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0019 0/0 3 0 1 0 2 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0020 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0021 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0022 0/0 2 0 0 1 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0023 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0024 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0025 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0026 0/1 2 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0027 0/0 2 0 2 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0028 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0029 0/0 2 0 0 0 0 2 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0030 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0031 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0032 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0033 0/0 2 1 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0034 0/0 2 0 2 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0035 0/0 2 1 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0036 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0037 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0038 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0039 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0040 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0041 0/0 2 0 0 0 0 2 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0042 0/0 2 0 1 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0043 0/0 2 0 1 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0044 0/0 2 0 1 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0045 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0046 0/0 2 1 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0047 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0048 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0049 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0050 0/0 2 0 1 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0051 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0052 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0053 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0054 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0055 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0056 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0057 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0058 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0059 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0060 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0061 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0062 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0063 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0064 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0065 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0066 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0067 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0068 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0069 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0070 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0071 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0072 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0073 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0074 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0075 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0076 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0077 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0078 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0079 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0080 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0081 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0082 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0083 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0084 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0085 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0086 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0087 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0088 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0089 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0090 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0091 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0092 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0093 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0094 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0095 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0096 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0097 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0098 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0099 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0100 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0101 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0102 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0103 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0104 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0105 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0106 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0107 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0108 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0109 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0110 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0111 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0112 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0113 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0114 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0115 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0116 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0117 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0118 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0119 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0120 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0121 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0122 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0123 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0124 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0125 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0126 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0127 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0128 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0129 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0130 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0131 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0132 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0133 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0134 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0135 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0136 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0137 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0138 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0139 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0140 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0141 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0142 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0143 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0144 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0145 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0146 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0147 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0148 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0149 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0150 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0151 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0152 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0153 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0154 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0155 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0156 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0157 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0158 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0159 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0160 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0161 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0162 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0163 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0164 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0165 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0166 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0167 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0168 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0169 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0170 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0171 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0172 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0173 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0174 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0175 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0176 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0177 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0178 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0179 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0180 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0181 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0182 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0183 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0184 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0185 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0186 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0187 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0188 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0189 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0190 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0191 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0192 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0193 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0194 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0195 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0196 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0197 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0198 1/0 1 0 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0199 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
g0200 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127

achapid grch38/
chm13v2
clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 216 356 86 76 132 16 44 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
a0002c0003 0/0 216 3 3 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
a0003c0002 0/0 216 3 3 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127

acthapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/0 777 198 14 49 93 11 30 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
a0001c0001t0002 0/1 777 156 72 27 37 5 14 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
a0001c0001t0003 0/0 777 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
a0002c0003t0002 0/0 777 3 3 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127
a0003c0002t0002 0/0 777 3 3 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 copy fasta chr20 31460471 31480127

actghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 48 1 10 29 3 5 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0002 0/0 23 3 4 10 3 3 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0003 0/0 11 1 1 4 0 5 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0004 0/0 9 0 4 4 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0008 0/0 5 1 2 1 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0009 0/0 5 0 0 5 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0010 0/0 4 1 3 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0015 0/0 3 0 3 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0016 0/0 3 0 2 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0017 0/0 3 0 0 2 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0018 0/0 3 0 1 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0019 0/0 3 0 1 0 2 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0039 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0040 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0041 0/0 2 0 0 0 0 2 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0042 0/0 2 0 1 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0043 0/0 2 0 1 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0044 0/0 2 0 1 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0045 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0046 0/0 2 1 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0047 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0048 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0049 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0050 0/0 2 0 1 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0051 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0149 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0150 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0151 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0152 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0153 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0154 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0155 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0156 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0157 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0158 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0159 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0160 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0161 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0162 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0163 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0165 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0167 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0168 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0169 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0171 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0172 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0173 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0174 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0175 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0176 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0177 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0178 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0179 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0180 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0181 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0182 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0183 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0184 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0185 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0186 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0187 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0188 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0189 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0190 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0191 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0192 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0193 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0194 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0195 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0196 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0197 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0198 1/0 1 0 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0199 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0001g0200 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0005 0/0 6 0 0 6 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0006 0/0 5 0 0 5 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0007 0/0 5 5 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0011 0/0 3 0 1 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0012 0/0 3 3 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0013 0/0 3 2 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0014 0/0 3 2 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0021 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0022 0/0 2 0 0 1 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0023 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0024 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0025 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0026 0/1 2 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0027 0/0 2 0 2 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0028 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0029 0/0 2 0 0 0 0 2 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0030 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0031 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0032 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0033 0/0 2 1 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0034 0/0 2 0 2 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0035 0/0 2 1 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0036 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0037 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0038 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0053 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0054 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0055 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0057 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0058 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0059 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0060 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0061 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0062 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0063 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0064 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0065 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0066 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0067 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0068 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0069 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0070 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0071 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0072 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0073 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0074 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0075 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0076 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0077 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0078 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0079 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0080 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0081 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0082 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0083 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0084 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0085 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0086 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0087 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0088 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0089 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0090 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0091 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0092 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0093 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0094 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0095 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0096 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0097 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0098 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0099 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0100 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0101 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0102 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0103 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0104 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0105 0/0 1 0 0 0 0 1 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0106 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0107 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0108 0/0 1 0 0 1 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0109 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0110 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0111 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0112 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0113 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0114 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0115 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0116 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0120 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0121 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0122 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0123 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0124 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0125 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0126 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0127 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0128 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0129 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0130 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0131 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0132 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0133 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0134 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0135 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0136 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0137 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0138 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0139 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0140 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0141 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0142 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0143 0/0 1 0 1 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0144 0/0 1 0 0 0 1 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0145 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0146 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0147 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0002g0148 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0001c0001t0003g0052 0/0 2 0 0 2 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0002c0003t0002g0020 0/0 2 2 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0002c0003t0002g0056 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0003c0002t0002g0117 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0003c0002t0002g0118 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
a0003c0002t0002g0119 0/0 1 1 0 0 0 0 DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127

sampleid ID
haplotypeid
ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0019 EUR GBR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00099 hp2 a0001 c0001 t0001 g0001 EUR GBR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00140 hp1 a0001 c0001 t0001 g0152 EUR GBR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00140 hp2 a0001 c0001 t0001 g0004 EUR GBR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00280 hp1 a0001 c0001 t0002 g0131 EUR FIN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00280 hp2 a0001 c0001 t0001 g0002 EUR FIN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00323 hp1 a0001 c0001 t0001 g0001 EUR FIN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00323 hp2 a0001 c0001 t0002 g0103 EUR FIN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00408 hp1 a0001 c0001 t0001 g0018 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00408 hp2 a0001 c0001 t0002 g0067 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00423 hp1 a0001 c0001 t0001 g0184 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00423 hp2 a0001 c0001 t0001 g0048 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00438 hp1 a0001 c0001 t0002 g0022 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00438 hp2 a0001 c0001 t0002 g0062 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00544 hp1 a0001 c0001 t0002 g0006 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00544 hp2 a0001 c0001 t0002 g0006 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00558 hp1 a0001 c0001 t0001 g0039 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00558 hp2 a0001 c0001 t0001 g0191 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00597 hp1 a0001 c0001 t0002 g0072 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00597 hp2 a0001 c0001 t0001 g0189 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00609 hp1 a0001 c0001 t0001 g0003 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00609 hp2 a0001 c0001 t0001 g0002 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00621 hp1 a0001 c0001 t0001 g0048 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00621 hp2 a0001 c0001 t0002 g0069 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00639 hp1 a0001 c0001 t0001 g0187 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00639 hp2 a0001 c0001 t0001 g0003 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00642 hp1 a0001 c0001 t0001 g0044 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00642 hp2 a0001 c0001 t0001 g0004 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00673 hp1 a0001 c0001 t0001 g0001 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00673 hp2 a0001 c0001 t0001 g0001 EAS CHS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00733 hp1 a0001 c0001 t0001 g0001 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00733 hp2 a0001 c0001 t0002 g0088 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00735 hp1 a0001 c0001 t0002 g0085 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00735 hp2 a0001 c0001 t0001 g0010 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00738 hp1 a0001 c0001 t0002 g0034 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00738 hp2 a0001 c0001 t0001 g0004 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00741 hp1 a0001 c0001 t0002 g0058 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG00741 hp2 a0001 c0001 t0001 g0001 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01069 hp1 a0001 c0001 t0002 g0111 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01069 hp2 a0001 c0001 t0001 g0010 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01070 hp1 a0001 c0001 t0002 g0027 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01070 hp2 a0001 c0001 t0001 g0002 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01071 hp1 a0001 c0001 t0002 g0027 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01071 hp2 a0001 c0001 t0001 g0010 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01074 hp1 a0001 c0001 t0001 g0151 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01074 hp2 a0001 c0001 t0001 g0002 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01081 hp1 a0001 c0001 t0001 g0004 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01081 hp2 a0001 c0001 t0001 g0008 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01099 hp1 a0001 c0001 t0001 g0046 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01099 hp2 a0001 c0001 t0001 g0018 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01106 hp1 a0001 c0001 t0001 g0153 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01106 hp2 a0001 c0001 t0001 g0176 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01109 hp1 a0001 c0001 t0002 g0095 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01109 hp2 a0001 c0001 t0002 g0132 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01167 hp1 a0001 c0001 t0002 g0034 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01167 hp2 a0001 c0001 t0002 g0014 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01168 hp1 a0001 c0001 t0001 g0015 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01168 hp2 a0001 c0001 t0002 g0079 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01175 hp1 a0001 c0001 t0001 g0001 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01175 hp2 a0001 c0001 t0001 g0154 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01192 hp1 a0001 c0001 t0002 g0101 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01192 hp2 a0001 c0001 t0002 g0109 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01243 hp1 a0001 c0001 t0002 g0035 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01243 hp2 a0001 c0001 t0001 g0015 AMR PUR DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01255 hp1 a0001 c0001 t0001 g0001 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01255 hp2 a0001 c0001 t0002 g0011 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01256 hp1 a0001 c0001 t0001 g0001 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01256 hp2 a0001 c0001 t0001 g0150 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01257 hp1 a0001 c0001 t0002 g0104 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01257 hp2 a0001 c0001 t0001 g0002 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01258 hp1 a0001 c0001 t0001 g0015 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01258 hp2 a0001 c0001 t0001 g0004 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01346 hp1 a0001 c0001 t0001 g0019 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01346 hp2 a0001 c0001 t0002 g0099 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01358 hp1 a0001 c0001 t0002 g0077 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01358 hp2 a0001 c0001 t0001 g0050 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01361 hp1 a0001 c0001 t0002 g0054 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01361 hp2 a0001 c0001 t0001 g0001 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01433 hp1 a0001 c0001 t0002 g0026 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01433 hp2 a0001 c0001 t0001 g0172 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01496 hp1 a0001 c0001 t0002 g0124 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01496 hp2 a0001 c0001 t0001 g0043 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01516 hp1 a0001 c0001 t0002 g0120 EUR IBS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01516 hp2 a0001 c0001 t0001 g0002 EUR IBS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01517 hp1 a0001 c0001 t0001 g0001 EUR IBS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01517 hp2 a0001 c0001 t0001 g0002 EUR IBS DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01884 hp1 a0001 c0001 t0002 g0028 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01884 hp2 a0001 c0001 t0002 g0035 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01891 hp1 a0001 c0001 t0002 g0012 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01891 hp2 a0001 c0001 t0002 g0141 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01928 hp1 a0001 c0001 t0001 g0001 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01928 hp2 a0001 c0001 t0002 g0065 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01934 hp1 a0001 c0001 t0001 g0163 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01934 hp2 a0001 c0001 t0002 g0110 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01952 hp1 a0001 c0001 t0001 g0001 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01952 hp2 a0001 c0001 t0001 g0002 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01975 hp1 a0001 c0001 t0002 g0127 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01975 hp2 a0001 c0001 t0001 g0001 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01978 hp1 a0001 c0001 t0001 g0016 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01978 hp2 a0001 c0001 t0001 g0016 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01981 hp1 a0001 c0001 t0001 g0185 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01981 hp2 a0001 c0001 t0001 g0177 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02027 hp1 a0001 c0001 t0001 g0049 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02027 hp2 a0001 c0001 t0001 g0001 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02040 hp1 a0001 c0001 t0003 g0052 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02040 hp2 a0001 c0001 t0002 g0021 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02055 hp1 a0001 c0001 t0002 g0074 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02055 hp2 a0001 c0001 t0002 g0028 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02056 hp1 a0001 c0001 t0001 g0162 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02056 hp2 a0001 c0001 t0002 g0076 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02074 hp1 a0001 c0001 t0001 g0166 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02074 hp2 a0001 c0001 t0001 g0051 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02080 hp1 a0001 c0001 t0001 g0002 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02080 hp2 a0001 c0001 t0001 g0016 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02083 hp1 a0001 c0001 t0001 g0008 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02083 hp2 a0001 c0001 t0001 g0001 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02145 hp1 a0001 c0001 t0002 g0081 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02145 hp2 a0001 c0001 t0002 g0133 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02148 hp1 a0001 c0001 t0001 g0183 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02148 hp2 a0001 c0001 t0001 g0001 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02155 hp1 a0001 c0001 t0002 g0006 EAS CDX DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02155 hp2 a0001 c0001 t0001 g0002 EAS CDX DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02165 hp1 a0001 c0001 t0002 g0084 EAS CDX DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02165 hp2 a0001 c0001 t0001 g0004 EAS CDX DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02257 hp1 a0001 c0001 t0001 g0046 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02257 hp2 a0001 c0001 t0002 g0038 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02258 hp1 a0001 c0001 t0002 g0031 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02258 hp2 a0001 c0001 t0002 g0145 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02280 hp1 a0001 c0001 t0001 g0003 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02280 hp2 a0001 c0001 t0002 g0123 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02293 hp1 a0001 c0001 t0001 g0200 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02293 hp2 a0001 c0001 t0001 g0149 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02300 hp1 a0001 c0001 t0002 g0112 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02300 hp2 a0001 c0001 t0001 g0042 AMR PEL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02451 hp1 a0001 c0001 t0002 g0138 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02451 hp2 a0001 c0001 t0002 g0007 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02523 hp1 a0001 c0001 t0001 g0002 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02523 hp2 a0001 c0001 t0002 g0102 EAS KHV DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02572 hp1 a0001 c0001 t0002 g0031 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02572 hp2 a0001 c0001 t0002 g0126 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02630 hp1 a0001 c0001 t0002 g0013 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02630 hp2 a0001 c0001 t0002 g0148 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02647 hp1 a0001 c0001 t0002 g0014 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02647 hp2 a0001 c0001 t0002 g0142 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02683 hp1 a0001 c0001 t0001 g0001 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02683 hp2 a0001 c0001 t0001 g0193 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02698 hp1 a0001 c0001 t0002 g0060 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02698 hp2 a0001 c0001 t0001 g0017 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02717 hp1 a0001 c0001 t0001 g0047 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02717 hp2 a0001 c0001 t0002 g0032 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02723 hp1 a0001 c0001 t0002 g0033 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02723 hp2 a0001 c0001 t0002 g0030 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02735 hp1 a0001 c0001 t0001 g0001 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02735 hp2 a0001 c0001 t0001 g0008 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02809 hp1 a0001 c0001 t0002 g0121 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02809 hp2 a0001 c0001 t0002 g0096 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02818 hp1 a0001 c0001 t0002 g0106 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02818 hp2 a0001 c0001 t0002 g0030 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02886 hp1 a0001 c0001 t0001 g0047 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02886 hp2 a0001 c0001 t0001 g0002 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02896 hp1 a0001 c0001 t0002 g0122 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02896 hp2 a0001 c0001 t0002 g0137 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02897 hp1 a0001 c0001 t0002 g0113 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02897 hp2 a0001 c0001 t0002 g0012 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02922 hp1 a0001 c0001 t0002 g0130 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02922 hp2 a0001 c0001 t0002 g0038 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02965 hp1 a0001 c0001 t0002 g0128 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02965 hp2 a0001 c0001 t0002 g0129 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02970 hp1 a0001 c0001 t0002 g0014 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02970 hp2 a0001 c0001 t0002 g0037 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02976 hp1 a0001 c0001 t0002 g0115 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02976 hp2 a0001 c0001 t0002 g0094 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03017 hp1 a0001 c0001 t0001 g0181 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03017 hp2 a0001 c0001 t0001 g0001 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03041 hp1 a0002 c0003 t0002 g0056 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03041 hp2 a0001 c0001 t0002 g0024 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03098 hp1 a0001 c0001 t0002 g0114 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03098 hp2 a0001 c0001 t0002 g0090 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03130 hp1 a0001 c0001 t0002 g0125 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03130 hp2 a0003 c0002 t0002 g0117 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03139 hp1 a0001 c0001 t0002 g0013 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03139 hp2 a0001 c0001 t0002 g0098 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03195 hp1 a0001 c0001 t0002 g0007 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03195 hp2 a0001 c0001 t0002 g0012 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03209 hp1 a0001 c0001 t0002 g0007 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03209 hp2 a0001 c0001 t0002 g0093 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03225 hp1 a0003 c0002 t0002 g0119 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03225 hp2 a0001 c0001 t0002 g0116 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03239 hp1 a0001 c0001 t0001 g0003 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03239 hp2 a0001 c0001 t0001 g0002 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03486 hp1 a0001 c0001 t0002 g0136 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03486 hp2 a0001 c0001 t0002 g0007 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03490 hp1 a0001 c0001 t0001 g0192 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03490 hp2 a0001 c0001 t0001 g0003 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03491 hp1 a0001 c0001 t0002 g0029 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03491 hp2 a0001 c0001 t0001 g0179 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03492 hp1 a0001 c0001 t0002 g0029 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03492 hp2 a0001 c0001 t0001 g0003 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03516 hp1 a0001 c0001 t0001 g0178 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03516 hp2 a0001 c0001 t0002 g0007 AFR ESN DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03540 hp1 a0001 c0001 t0001 g0161 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03540 hp2 a0001 c0001 t0001 g0008 AFR GWD DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03579 hp1 a0001 c0001 t0002 g0140 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03579 hp2 a0001 c0001 t0002 g0139 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03654 hp1 a0001 c0001 t0001 g0180 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03654 hp2 a0001 c0001 t0002 g0053 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03669 hp1 a0001 c0001 t0001 g0195 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03669 hp2 a0001 c0001 t0001 g0194 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03688 hp1 a0001 c0001 t0001 g0041 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03688 hp2 a0001 c0001 t0001 g0041 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03704 hp1 a0001 c0001 t0001 g0001 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03704 hp2 a0001 c0001 t0001 g0002 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03710 hp1 a0001 c0001 t0002 g0070 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03710 hp2 a0001 c0001 t0001 g0003 SAS PJL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03831 hp1 a0001 c0001 t0001 g0182 SAS BEB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03831 hp2 a0001 c0001 t0001 g0044 SAS BEB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03834 hp1 a0001 c0001 t0002 g0013 SAS BEB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03834 hp2 a0001 c0001 t0001 g0002 SAS BEB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03927 hp1 a0001 c0001 t0001 g0171 SAS BEB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03927 hp2 a0001 c0001 t0001 g0156 SAS BEB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04115 hp1 a0001 c0001 t0001 g0169 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04115 hp2 a0001 c0001 t0002 g0073 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04184 hp1 a0001 c0001 t0002 g0066 SAS BEB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04184 hp2 a0001 c0001 t0001 g0001 SAS BEB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04199 hp1 a0001 c0001 t0001 g0003 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04199 hp2 a0001 c0001 t0002 g0105 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04204 hp1 a0001 c0001 t0002 g0100 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04204 hp2 a0001 c0001 t0002 g0063 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04228 hp1 a0001 c0001 t0002 g0022 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG04228 hp2 a0001 c0001 t0001 g0157 SAS STU DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18522 hp1 a0001 c0001 t0002 g0092 AFR YRI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18522 hp2 a0001 c0001 t0002 g0097 AFR YRI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18612 hp1 a0001 c0001 t0001 g0186 EAS CHB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18612 hp2 a0001 c0001 t0001 g0002 EAS CHB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18747 hp1 a0001 c0001 t0001 g0002 EAS CHB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18747 hp2 a0001 c0001 t0001 g0001 EAS CHB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18906 hp1 a0001 c0001 t0002 g0091 AFR YRI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18906 hp2 a0001 c0001 t0002 g0107 AFR YRI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18942 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18942 hp2 a0001 c0001 t0001 g0167 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18943 hp1 a0001 c0001 t0001 g0004 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18943 hp2 a0001 c0001 t0001 g0043 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18947 hp1 a0001 c0001 t0002 g0083 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18947 hp2 a0001 c0001 t0001 g0164 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18948 hp1 a0001 c0001 t0001 g0017 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18948 hp2 a0001 c0001 t0001 g0050 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18950 hp1 a0001 c0001 t0001 g0002 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18950 hp2 a0001 c0001 t0001 g0045 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18952 hp1 a0001 c0001 t0002 g0108 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18952 hp2 a0001 c0001 t0002 g0082 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18953 hp1 a0001 c0001 t0001 g0168 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18953 hp2 a0001 c0001 t0002 g0064 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18954 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18954 hp2 a0001 c0001 t0002 g0005 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18956 hp1 a0001 c0001 t0002 g0011 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18956 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18957 hp1 a0001 c0001 t0002 g0005 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18957 hp2 a0001 c0001 t0001 g0040 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18962 hp1 a0001 c0001 t0001 g0009 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18962 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18964 hp1 a0001 c0001 t0001 g0004 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18964 hp2 a0001 c0001 t0001 g0042 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18968 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18968 hp2 a0001 c0001 t0001 g0175 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18970 hp1 a0001 c0001 t0002 g0025 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18970 hp2 a0001 c0001 t0002 g0006 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18971 hp1 a0001 c0001 t0001 g0003 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18971 hp2 a0001 c0001 t0001 g0002 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18973 hp1 a0001 c0001 t0002 g0005 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18973 hp2 a0001 c0001 t0001 g0165 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18974 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18974 hp2 a0001 c0001 t0002 g0061 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18975 hp1 a0001 c0001 t0002 g0023 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18975 hp2 a0001 c0001 t0001 g0170 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18977 hp1 a0001 c0001 t0003 g0052 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18977 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18980 hp1 a0001 c0001 t0001 g0045 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18980 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18981 hp1 a0001 c0001 t0001 g0009 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18981 hp2 a0001 c0001 t0002 g0068 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18982 hp1 a0001 c0001 t0001 g0160 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18982 hp2 a0001 c0001 t0001 g0009 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18983 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18983 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18989 hp1 a0001 c0001 t0001 g0173 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18989 hp2 a0001 c0001 t0001 g0197 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18991 hp1 a0001 c0001 t0001 g0190 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18991 hp2 a0001 c0001 t0001 g0159 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18992 hp1 a0001 c0001 t0001 g0039 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18992 hp2 a0001 c0001 t0001 g0017 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18998 hp1 a0001 c0001 t0001 g0018 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18998 hp2 a0001 c0001 t0002 g0057 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19002 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19002 hp2 a0001 c0001 t0001 g0155 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19004 hp1 a0001 c0001 t0001 g0040 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19004 hp2 a0001 c0001 t0001 g0051 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19010 hp1 a0001 c0001 t0002 g0023 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19010 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19011 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19011 hp2 a0001 c0001 t0001 g0009 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19030 hp1 a0001 c0001 t0002 g0146 AFR LWK DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19030 hp2 a0001 c0001 t0001 g0158 AFR LWK DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19043 hp1 a0002 c0003 t0002 g0020 AFR LWK DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19043 hp2 a0001 c0001 t0002 g0036 AFR LWK DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19054 hp1 a0001 c0001 t0001 g0049 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19054 hp2 a0001 c0001 t0001 g0003 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19056 hp1 a0001 c0001 t0002 g0005 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19056 hp2 a0001 c0001 t0001 g0009 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19062 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19062 hp2 a0001 c0001 t0002 g0025 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19065 hp1 a0001 c0001 t0001 g0002 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19065 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19066 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19066 hp2 a0001 c0001 t0002 g0005 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19068 hp1 a0001 c0001 t0002 g0005 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19068 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19070 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19070 hp2 a0001 c0001 t0002 g0089 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19074 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19074 hp2 a0001 c0001 t0001 g0188 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19079 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19079 hp2 a0001 c0001 t0002 g0011 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19084 hp1 a0001 c0001 t0001 g0004 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19084 hp2 a0001 c0001 t0001 g0003 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19086 hp1 a0001 c0001 t0002 g0021 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19086 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19087 hp1 a0001 c0001 t0002 g0086 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19087 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19088 hp1 a0001 c0001 t0001 g0002 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19088 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19090 hp1 a0001 c0001 t0002 g0006 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19090 hp2 a0001 c0001 t0001 g0174 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19240 hp1 a0001 c0001 t0002 g0059 AFR YRI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA19240 hp2 a0001 c0001 t0002 g0134 AFR YRI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20129 hp1 a0001 c0001 t0001 g0199 AFR ASW DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20129 hp2 a0001 c0001 t0002 g0078 AFR ASW DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20752 hp1 a0001 c0001 t0001 g0019 EUR TSI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20752 hp2 a0001 c0001 t0002 g0144 EUR TSI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20805 hp1 a0001 c0001 t0001 g0196 EUR TSI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20805 hp2 a0001 c0001 t0002 g0071 EUR TSI DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20905 hp1 a0001 c0001 t0002 g0075 SAS GIH DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20905 hp2 a0001 c0001 t0002 g0033 SAS GIH DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01123 hp1 a0001 c0001 t0001 g0008 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG01123 hp2 a0001 c0001 t0002 g0143 AMR CLM DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02109 hp1 a0001 c0001 t0001 g0002 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02109 hp2 a0002 c0003 t0002 g0020 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02486 hp1 a0001 c0001 t0002 g0024 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02486 hp2 a0001 c0001 t0002 g0037 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02559 hp1 a0001 c0001 t0002 g0055 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG02559 hp2 a0001 c0001 t0001 g0010 AFR ACB DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03471 hp1 a0003 c0002 t0002 g0118 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG03471 hp2 a0001 c0001 t0002 g0032 AFR MSL DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG06807 hp1 a0001 c0001 t0002 g0135 AFR USA DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
HG06807 hp2 a0001 c0001 t0002 g0147 AFR USA DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18955 hp1 a0001 c0001 t0002 g0087 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA18955 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20300 hp1 a0001 c0001 t0001 g0002 AFR USA DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA20300 hp2 a0001 c0001 t0002 g0036 AFR USA DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA21309 hp1 a0001 c0001 t0001 g0001 AFR LWK DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
NA21309 hp2 a0001 c0001 t0002 g0080 AFR LWK DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
homoSapiens_chm13v2 hp1 a0001 c0001 t0002 g0026 REF REF DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0198 REF REF DEFB124_chr20_31460471_31480127 DEFB124 chr20 31460471 31480127

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
chr20:31465531 G
G
A
A
1 a0003
a0003
3 HG03130.hp2
HG03225.hp1
HG03471.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp1
missense_variant MODERATE c.191C>T
c.191C>T
p.Pro64Leu
p.Pro64Leu
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 3/3 717/777 191/216 64/71 chr20 31465531
chr20:31465549 T
T
C
C
1 a0002
a0002
3 HG02109.hp2
HG03041.hp1
NA19043.hp1
HG02109.hp2
HG03041.hp1
NA19043.hp1
missense_variant MODERATE c.173A>G
c.173A>G
p.Tyr58Cys
p.Tyr58Cys
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 3/3 699/777 173/216 58/71 chr20 31465549

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

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
chr20:31473020 G
G
A
A
1 a0001c0001t0003
a0001c0001t0003
2 HG02040.hp1
NA18977.hp1
HG02040.hp1
NA18977.hp1
5_prime_UTR_premature_start_codon_gain_variant LOW c.-7C>T
c.-7C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/3 chr20 31473020
chr20:31474653 C
C
G
G
3 a0001c0001t0002
a0002c0003t0002
a0003c0002t0002
a0001c0001t0002
a0002c0003t0002
a0003c0002t0002
162 HG00280.hp1
HG00323.hp2
HG00408.hp2
others(159): Show 
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.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
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
5_prime_UTR_variant MODIFIER c.-52G>C
c.-52G>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/3 1640 chr20 31474653

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
chr20:31465936 C
C
G
G
33 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
others(30): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0097
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0124
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0145
51 HG00280.hp1
HG00738.hp1
HG01069.hp1
others(48): Show 
HG00280.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01975.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03834.hp1
NA18522.hp2
NA20905.hp2
intron_variant MODIFIER c.59-273G>C
c.59-273G>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31465936
chr20:31465968 C
C
A
A
1 a0001c0001t0002g0129
a0001c0001t0002g0129
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.59-305G>T
c.59-305G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31465968
chr20:31465998 A
A
T
T
12 a0001c0001t0001g0194
a0001c0001t0002g0026
a0001c0001t0002g0098
others(9): Show 
a0001c0001t0001g0194
a0001c0001t0002g0026
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0143
a0001c0001t0002g0144
13 HG00323.hp2
HG01123.hp2
HG01192.hp1
others(10): Show 
HG00323.hp2
HG01123.hp2
HG01192.hp1
HG01257.hp1
HG01346.hp2
HG01433.hp1
HG02523.hp2
HG03139.hp2
HG03669.hp2
HG04199.hp2
HG04204.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.59-335T>A
c.59-335T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31465998
chr20:31466013 C
C
T
T
6 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
others(3): Show 
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
6 HG02818.hp1
HG02976.hp2
HG03098.hp2
others(3): Show 
HG02818.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp2
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.59-350G>A
c.59-350G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466013
chr20:31466049 C
C
T
T
6 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
others(3): Show 
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
6 HG02818.hp1
HG02976.hp2
HG03098.hp2
others(3): Show 
HG02818.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp2
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.59-386G>A
c.59-386G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466049
chr20:31466240 C
C
T
T
1 a0001c0001t0001g0177
a0001c0001t0001g0177
1 HG01981.hp2
HG01981.hp2
intron_variant MODIFIER c.59-577G>A
c.59-577G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466240
chr20:31466337 C
C
T
T
1 a0001c0001t0002g0142
a0001c0001t0002g0142
1 HG02647.hp2
HG02647.hp2
intron_variant MODIFIER c.59-674G>A
c.59-674G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466337
chr20:31466341 T
T
C
C
2 a0001c0001t0002g0055
a0001c0001t0002g0092
a0001c0001t0002g0055
a0001c0001t0002g0092
2 HG02559.hp1
NA18522.hp1
HG02559.hp1
NA18522.hp1
intron_variant MODIFIER c.59-678A>G
c.59-678A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466341
chr20:31466564 C
C
T
T
4 a0001c0001t0002g0024
a0001c0001t0002g0074
a0001c0001t0002g0080
others(1): Show 
a0001c0001t0002g0024
a0001c0001t0002g0074
a0001c0001t0002g0080
a0001c0001t0002g0081
5 HG02055.hp1
HG02145.hp1
HG02486.hp1
others(2): Show 
HG02055.hp1
HG02145.hp1
HG02486.hp1
HG03041.hp2
NA21309.hp2
intron_variant MODIFIER c.59-901G>A
c.59-901G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466564
chr20:31466592 T
T
C
C
4 a0001c0001t0002g0061
a0001c0001t0002g0072
a0001c0001t0002g0082
others(1): Show 
a0001c0001t0002g0061
a0001c0001t0002g0072
a0001c0001t0002g0082
a0001c0001t0002g0084
4 HG00597.hp1
HG02165.hp1
NA18952.hp2
others(1): Show 
HG00597.hp1
HG02165.hp1
NA18952.hp2
NA18974.hp2
intron_variant MODIFIER c.59-929A>G
c.59-929A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466592
chr20:31466606 A
A
AAT
AAT
2 a0001c0001t0001g0010
a0001c0001t0001g0158
a0001c0001t0001g0010
a0001c0001t0001g0158
5 HG00735.hp2
HG01069.hp2
HG01071.hp2
others(2): Show 
HG00735.hp2
HG01069.hp2
HG01071.hp2
HG02559.hp2
NA19030.hp2
intron_variant MODIFIER c.59-945_59-944dupAT
c.59-945_59-944dupAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(3): Show 
AATATATATAT
7 a0001c0001t0002g0014
a0001c0001t0002g0054
a0001c0001t0002g0090
others(4): Show 
a0001c0001t0002g0014
a0001c0001t0002g0054
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0106
a0001c0001t0002g0140
a0001c0001t0002g0142
9 HG01167.hp2
HG01361.hp1
HG02647.hp1
others(6): Show 
HG01167.hp2
HG01361.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02970.hp1
HG03098.hp2
HG03579.hp1
NA18906.hp1
intron_variant MODIFIER c.59-953_59-944dupAT
others(8): Show 
c.59-953_59-944dupATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(5): Show 
AATATATATATAT
2 a0001c0001t0002g0037
a0001c0001t0002g0141
a0001c0001t0002g0037
a0001c0001t0002g0141
3 HG01891.hp2
HG02486.hp2
HG02970.hp2
HG01891.hp2
HG02486.hp2
HG02970.hp2
intron_variant MODIFIER c.59-955_59-944dupAT
others(10): Show 
c.59-955_59-944dupATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(7): Show 
AATATATATATATAT
14 a0001c0001t0002g0013
a0001c0001t0002g0025
a0001c0001t0002g0027
others(11): Show 
a0001c0001t0002g0013
a0001c0001t0002g0025
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0064
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0107
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0124
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
19 HG00280.hp1
HG01070.hp1
HG01071.hp1
others(16): Show 
HG00280.hp1
HG01070.hp1
HG01071.hp1
HG01192.hp2
HG01496.hp1
HG01934.hp2
HG02630.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03139.hp1
HG03209.hp2
HG03491.hp1
HG03492.hp1
HG03834.hp1
NA18906.hp2
NA18953.hp2
NA18970.hp1
NA19062.hp2
intron_variant MODIFIER c.59-957_59-944dupAT
others(12): Show 
c.59-957_59-944dupATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(9): Show 
AATATATATATATATAT
25 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(22): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0024
a0001c0001t0002g0028
a0001c0001t0002g0053
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0074
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0079
a0001c0001t0002g0085
a0001c0001t0002g0097
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0120
a0001c0001t0002g0127
42 HG00408.hp2
HG00438.hp2
HG00544.hp1
others(39): Show 
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00621.hp2
HG00735.hp1
HG01168.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp1
HG01884.hp1
HG01928.hp2
HG01975.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02155.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp2
HG03516.hp2
HG03654.hp2
HG03710.hp1
HG04184.hp1
HG04204.hp2
NA18522.hp2
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18970.hp2
NA18973.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19090.hp1
intron_variant MODIFIER c.59-959_59-944dupAT
others(14): Show 
c.59-959_59-944dupATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(11): Show 
AATATATATATATATATAT
20 a0001c0001t0002g0021
a0001c0001t0002g0023
a0001c0001t0002g0030
others(17): Show 
a0001c0001t0002g0021
a0001c0001t0002g0023
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0068
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0111
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0121
a0001c0001t0002g0128
24 HG00597.hp1
HG00733.hp2
HG01069.hp1
others(21): Show 
HG00597.hp1
HG00733.hp2
HG01069.hp1
HG02040.hp2
HG02145.hp1
HG02165.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02976.hp1
HG03225.hp2
NA18947.hp1
NA18952.hp2
NA18955.hp1
NA18975.hp1
NA18981.hp2
NA19010.hp1
NA19086.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
intron_variant MODIFIER c.59-944_59-943insAT
others(16): Show 
c.59-944_59-943insATATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(13): Show 
AATATATATATATATATATAT
7 a0001c0001t0002g0012
a0001c0001t0002g0022
a0001c0001t0002g0032
others(4): Show 
a0001c0001t0002g0012
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0035
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0122
12 HG00438.hp1
HG01243.hp1
HG01884.hp2
others(9): Show 
HG00438.hp1
HG01243.hp1
HG01884.hp2
HG01891.hp1
HG02698.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03195.hp2
HG03471.hp2
HG04228.hp1
NA18998.hp2
intron_variant MODIFIER c.59-944_59-943insAT
others(18): Show 
c.59-944_59-943insATATATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(15): Show 
AATATATATATATATATATATAT
3 a0001c0001t0002g0034
a0001c0001t0002g0061
a0001c0001t0002g0108
a0001c0001t0002g0034
a0001c0001t0002g0061
a0001c0001t0002g0108
4 HG00738.hp1
HG01167.hp1
NA18952.hp1
others(1): Show 
HG00738.hp1
HG01167.hp1
NA18952.hp1
NA18974.hp2
intron_variant MODIFIER c.59-944_59-943insAT
others(20): Show 
c.59-944_59-943insATATATATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(17): Show 
AATATATATATATATATATATATAT
6 a0001c0001t0002g0073
a0001c0001t0002g0086
a0001c0001t0002g0089
others(3): Show 
a0001c0001t0002g0073
a0001c0001t0002g0086
a0001c0001t0002g0089
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0146
6 HG01109.hp1
HG02809.hp2
HG04115.hp2
others(3): Show 
HG01109.hp1
HG02809.hp2
HG04115.hp2
NA19030.hp1
NA19070.hp2
NA19087.hp1
intron_variant MODIFIER c.59-944_59-943insAT
others(22): Show 
c.59-944_59-943insATATATATATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(19): Show 
AATATATATATATATATATATATATAT
4 a0001c0001t0002g0038
a0001c0001t0002g0144
a0001c0001t0002g0145
others(1): Show 
a0001c0001t0002g0038
a0001c0001t0002g0144
a0001c0001t0002g0145
a0002c0003t0002g0020
6 HG02109.hp2
HG02257.hp2
HG02258.hp2
others(3): Show 
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02922.hp2
NA19043.hp1
NA20752.hp2
intron_variant MODIFIER c.59-944_59-943insAT
others(24): Show 
c.59-944_59-943insATATATATATATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(21): Show 
AATATATATATATATATATATATATATAT
1 a0001c0001t0002g0125
a0001c0001t0002g0125
1 HG03130.hp1
HG03130.hp1
intron_variant MODIFIER c.59-944_59-943insAT
others(26): Show 
c.59-944_59-943insATATATATATATATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(23): Show 
AATATATATATATATATATATATATATATAT
2 a0001c0001t0002g0031
a0001c0001t0002g0133
a0001c0001t0002g0031
a0001c0001t0002g0133
3 HG02145.hp2
HG02258.hp1
HG02572.hp1
HG02145.hp2
HG02258.hp1
HG02572.hp1
intron_variant MODIFIER c.59-944_59-943insAT
others(28): Show 
c.59-944_59-943insATATATATATATATATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(25): Show 
AATATATATATATATATATATATATATATATAT
5 a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0135
others(2): Show 
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0135
a0001c0001t0002g0138
a0001c0001t0002g0147
5 HG00741.hp1
HG02451.hp1
HG06807.hp1
others(2): Show 
HG00741.hp1
HG02451.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
intron_variant MODIFIER c.59-944_59-943insAT
others(30): Show 
c.59-944_59-943insATATATATATATATATATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(27): Show 
AATATATATATATATATATATATATATATATATAT
7 a0001c0001t0001g0194
a0001c0001t0002g0055
a0001c0001t0002g0105
others(4): Show 
a0001c0001t0001g0194
a0001c0001t0002g0055
a0001c0001t0002g0105
a0001c0001t0002g0132
a0001c0001t0002g0137
a0001c0001t0002g0139
a0003c0002t0002g0117
7 HG01109.hp2
HG02559.hp1
HG02896.hp2
others(4): Show 
HG01109.hp2
HG02559.hp1
HG02896.hp2
HG03130.hp2
HG03579.hp2
HG03669.hp2
HG04199.hp2
intron_variant MODIFIER c.59-944_59-943insAT
others(32): Show 
c.59-944_59-943insATATATATATATATATATATATATATATATAT
AT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(29): Show 
AATATATATATATATATATATATATATATATATATAT
5 a0001c0001t0002g0092
a0001c0001t0002g0098
a0001c0001t0002g0102
others(2): Show 
a0001c0001t0002g0092
a0001c0001t0002g0098
a0001c0001t0002g0102
a0001c0001t0002g0123
a0001c0001t0002g0134
5 HG02280.hp2
HG02523.hp2
HG03139.hp2
others(2): Show 
HG02280.hp2
HG02523.hp2
HG03139.hp2
NA18522.hp1
NA19240.hp2
intron_variant MODIFIER c.59-944_59-943insAT
others(34): Show 
c.59-944_59-943insATATATATATATATATATATATATATATATAT
ATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(31): Show 
AATATATATATATATATATATATATATATATATATATAT
3 a0001c0001t0002g0036
a0001c0001t0002g0103
a0003c0002t0002g0119
a0001c0001t0002g0036
a0001c0001t0002g0103
a0003c0002t0002g0119
4 HG00323.hp2
HG03225.hp1
NA19043.hp2
others(1): Show 
HG00323.hp2
HG03225.hp1
NA19043.hp2
NA20300.hp2
intron_variant MODIFIER c.59-944_59-943insAT
others(36): Show 
c.59-944_59-943insATATATATATATATATATATATATATATATAT
ATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(33): Show 
AATATATATATATATATATATATATATATATATATATATAT
4 a0001c0001t0002g0100
a0001c0001t0002g0136
a0001c0001t0002g0143
others(1): Show 
a0001c0001t0002g0100
a0001c0001t0002g0136
a0001c0001t0002g0143
a0001c0001t0002g0148
4 HG01123.hp2
HG02630.hp2
HG03486.hp1
others(1): Show 
HG01123.hp2
HG02630.hp2
HG03486.hp1
HG04204.hp1
intron_variant MODIFIER c.59-944_59-943insAT
others(38): Show 
c.59-944_59-943insATATATATATATATATATATATATATATATAT
ATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(35): Show 
AATATATATATATATATATATATATATATATATATATATATAT
2 a0001c0001t0002g0026
a0001c0001t0002g0099
a0001c0001t0002g0026
a0001c0001t0002g0099
3 HG01346.hp2
HG01433.hp1
homoSapiens_chm13v2.hp1
HG01346.hp2
HG01433.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.59-944_59-943insAT
others(40): Show 
c.59-944_59-943insATATATATATATATATATATATATATATATAT
ATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(37): Show 
AATATATATATATATATATATATATATATATATATATATATATAT
1 a0003c0002t0002g0118
a0003c0002t0002g0118
1 HG03471.hp1
HG03471.hp1
intron_variant MODIFIER c.59-944_59-943insAT
others(42): Show 
c.59-944_59-943insATATATATATATATATATATATATATATATAT
ATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
AATATATA
others(39): Show 
AATATATATATATATATATATATATATATATATATATATATATATAT
1 a0002c0003t0002g0056
a0002c0003t0002g0056
1 HG03041.hp1
HG03041.hp1
intron_variant MODIFIER c.59-944_59-943insAT
others(44): Show 
c.59-944_59-943insATATATATATATATATATATATATATATATAT
ATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466606 A
A
ATATATAT
others(20): Show 
ATATATATATATATATATATATATATAT
1 a0001c0001t0002g0126
a0001c0001t0002g0126
1 HG02572.hp2
HG02572.hp2
intron_variant MODIFIER c.59-944_59-943insAT
others(25): Show 
c.59-944_59-943insATATATATATATATATATATATATATA
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466606
chr20:31466618 T
T
TATATATA
others(41): Show 
TATATATATATATATATATATATATATATATATATATATATATATATAA
1 a0001c0001t0002g0104
a0001c0001t0002g0104
1 HG01257.hp1
HG01257.hp1
intron_variant MODIFIER c.59-956_59-955insTT
others(46): Show 
c.59-956_59-955insTTATATATATATATATATATATATATATATAT
ATATATATATATATAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466618
chr20:31466621 A
A
C
C
1 a0001c0001t0001g0185
a0001c0001t0001g0185
1 HG01981.hp1
HG01981.hp1
intron_variant MODIFIER c.59-958T>G
c.59-958T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466621
chr20:31466623 A
A
ATATATAT
others(10): Show 
ATATATATATATATATAT
1 a0001c0001t0002g0080
a0001c0001t0002g0080
1 NA21309.hp2
NA21309.hp2
intron_variant MODIFIER c.59-961_59-960insAT
others(15): Show 
c.59-961_59-960insATATATATATATATATA
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466623
chr20:31466623 A
A
ATATATAT
others(36): Show 
ATATATATATATATATATATATATATATATATATATATATATAT
1 a0001c0001t0002g0101
a0001c0001t0002g0101
1 HG01192.hp1
HG01192.hp1
intron_variant MODIFIER c.59-961_59-960insAT
others(41): Show 
c.59-961_59-960insATATATATATATATATATATATATATATATAT
ATATATATATA
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31466623
chr20:31467317 A
A
AATGATAC
others(4): Show 
AATGATACTTAC
1 a0001c0001t0001g0151
a0001c0001t0001g0151
1 HG01074.hp1
HG01074.hp1
intron_variant MODIFIER c.59-1655_59-1654ins
others(11): Show 
c.59-1655_59-1654insGTAAGTATCAT
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467317
chr20:31467318 G
G
T
T
1 a0001c0001t0001g0151
a0001c0001t0001g0151
1 HG01074.hp1
HG01074.hp1
intron_variant MODIFIER c.59-1655C>A
c.59-1655C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467318
chr20:31467337 T
T
A
A
1 a0001c0001t0001g0040
a0001c0001t0001g0040
2 NA18957.hp2
NA19004.hp1
NA18957.hp2
NA19004.hp1
intron_variant MODIFIER c.59-1674A>T
c.59-1674A>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467337
chr20:31467384 C
C
T
T
1 a0001c0001t0001g0184
a0001c0001t0001g0184
1 HG00423.hp1
HG00423.hp1
intron_variant MODIFIER c.59-1721G>A
c.59-1721G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467384
chr20:31467430 A
A
T
T
12 a0001c0001t0001g0194
a0001c0001t0002g0026
a0001c0001t0002g0098
others(9): Show 
a0001c0001t0001g0194
a0001c0001t0002g0026
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0143
a0001c0001t0002g0144
13 HG00323.hp2
HG01123.hp2
HG01192.hp1
others(10): Show 
HG00323.hp2
HG01123.hp2
HG01192.hp1
HG01257.hp1
HG01346.hp2
HG01433.hp1
HG02523.hp2
HG03139.hp2
HG03669.hp2
HG04199.hp2
HG04204.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.59-1767T>A
c.59-1767T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467430
chr20:31467529 T
T
C
C
5 a0001c0001t0001g0009
a0001c0001t0001g0045
a0001c0001t0001g0159
others(2): Show 
a0001c0001t0001g0009
a0001c0001t0001g0045
a0001c0001t0001g0159
a0001c0001t0001g0173
a0001c0001t0001g0175
10 NA18950.hp2
NA18962.hp1
NA18968.hp2
others(7): Show 
NA18950.hp2
NA18962.hp1
NA18968.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18989.hp1
NA18991.hp2
NA19011.hp2
NA19056.hp2
intron_variant MODIFIER c.59-1866A>G
c.59-1866A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467529
chr20:31467553 G
G
A
A
1 a0001c0001t0002g0096
a0001c0001t0002g0096
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.59-1890C>T
c.59-1890C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467553
chr20:31467568 T
T
A
A
6 a0001c0001t0002g0125
a0001c0001t0002g0146
a0001c0001t0002g0147
others(3): Show 
a0001c0001t0002g0125
a0001c0001t0002g0146
a0001c0001t0002g0147
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
6 HG03130.hp1
HG03130.hp2
HG03225.hp1
others(3): Show 
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp1
HG06807.hp2
NA19030.hp1
intron_variant MODIFIER c.59-1905A>T
c.59-1905A>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467568
chr20:31467719 C
C
T
T
1 a0001c0001t0002g0076
a0001c0001t0002g0076
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.59-2056G>A
c.59-2056G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467719
chr20:31467935 T
T
G
G
12 a0001c0001t0001g0194
a0001c0001t0002g0026
a0001c0001t0002g0098
others(9): Show 
a0001c0001t0001g0194
a0001c0001t0002g0026
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0143
a0001c0001t0002g0144
13 HG00323.hp2
HG01123.hp2
HG01192.hp1
others(10): Show 
HG00323.hp2
HG01123.hp2
HG01192.hp1
HG01257.hp1
HG01346.hp2
HG01433.hp1
HG02523.hp2
HG03139.hp2
HG03669.hp2
HG04199.hp2
HG04204.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.59-2272A>C
c.59-2272A>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467935
chr20:31467945 G
G
T
T
1 a0001c0001t0001g0196
a0001c0001t0001g0196
1 NA20805.hp1
NA20805.hp1
intron_variant MODIFIER c.59-2282C>A
c.59-2282C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467945
chr20:31467953 A
A
G
G
3 a0001c0001t0001g0050
a0001c0001t0001g0149
a0001c0001t0001g0200
a0001c0001t0001g0050
a0001c0001t0001g0149
a0001c0001t0001g0200
4 HG01358.hp2
HG02293.hp1
HG02293.hp2
others(1): Show 
HG01358.hp2
HG02293.hp1
HG02293.hp2
NA18948.hp2
intron_variant MODIFIER c.59-2290T>C
c.59-2290T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467953
chr20:31467987 A
A
C
C
13 a0001c0001t0002g0014
a0001c0001t0002g0037
a0001c0001t0002g0054
others(10): Show 
a0001c0001t0002g0014
a0001c0001t0002g0037
a0001c0001t0002g0054
a0001c0001t0002g0058
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
16 HG00741.hp1
HG01167.hp2
HG01361.hp1
others(13): Show 
HG00741.hp1
HG01167.hp2
HG01361.hp1
HG01891.hp2
HG02486.hp2
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03209.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.59-2324T>G
c.59-2324T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31467987
chr20:31468287 G
G
A
A
42 a0001c0001t0001g0181
a0001c0001t0002g0005
a0001c0001t0002g0006
others(39): Show 
a0001c0001t0001g0181
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0053
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0108
58 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(55): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG01168.hp2
HG01255.hp2
HG01358.hp1
HG01928.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp1
HG03041.hp2
HG03654.hp2
HG03710.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.59-2624C>T
c.59-2624C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468287
chr20:31468329 A
A
C
C
1 a0001c0001t0002g0122
a0001c0001t0002g0122
1 HG02896.hp1
HG02896.hp1
intron_variant MODIFIER c.59-2666T>G
c.59-2666T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468329
chr20:31468400 A
A
G
G
22 a0001c0001t0002g0014
a0001c0001t0002g0036
a0001c0001t0002g0037
others(19): Show 
a0001c0001t0002g0014
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0054
a0001c0001t0002g0125
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
26 HG01109.hp2
HG01167.hp2
HG01361.hp1
others(23): Show 
HG01109.hp2
HG01167.hp2
HG01361.hp1
HG01891.hp2
HG02145.hp2
HG02451.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
HG06807.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp2
intron_variant MODIFIER c.59-2737T>C
c.59-2737T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468400
chr20:31468431 TTGTTGAG
others(23): Show 
TTGTTGAGGTTGAGTGATGGGTAATAAGGGC
T
T
1 a0001c0001t0001g0189
a0001c0001t0001g0189
1 HG00597.hp2
HG00597.hp2
intron_variant MODIFIER c.59-2798_59-2769del
others(30): Show 
c.59-2798_59-2769delGCCCTTATTACCCATCACTCAACCTCAACA
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468431
chr20:31468472 T
T
C
C
3 a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0128
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0128
5 HG00738.hp1
HG01167.hp1
HG01243.hp1
others(2): Show 
HG00738.hp1
HG01167.hp1
HG01243.hp1
HG01884.hp2
HG02965.hp1
intron_variant MODIFIER c.59-2809A>G
c.59-2809A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468472
chr20:31468529 G
G
A
A
2 a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0106
a0001c0001t0002g0107
2 HG02818.hp1
NA18906.hp2
HG02818.hp1
NA18906.hp2
intron_variant MODIFIER c.59-2866C>T
c.59-2866C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468529
chr20:31468537 G
G
A
A
2 a0002c0003t0002g0020
a0002c0003t0002g0056
a0002c0003t0002g0020
a0002c0003t0002g0056
3 HG02109.hp2
HG03041.hp1
NA19043.hp1
HG02109.hp2
HG03041.hp1
NA19043.hp1
intron_variant MODIFIER c.59-2874C>T
c.59-2874C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468537
chr20:31468589 C
C
T
T
1 a0001c0001t0001g0181
a0001c0001t0001g0181
1 HG03017.hp1
HG03017.hp1
intron_variant MODIFIER c.59-2926G>A
c.59-2926G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468589
chr20:31468764 C
C
T
T
1 a0001c0001t0001g0179
a0001c0001t0001g0179
1 HG03491.hp2
HG03491.hp2
intron_variant MODIFIER c.59-3101G>A
c.59-3101G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468764
chr20:31468777 G
G
C
C
2 a0001c0001t0002g0025
a0001c0001t0002g0064
a0001c0001t0002g0025
a0001c0001t0002g0064
3 NA18953.hp2
NA18970.hp1
NA19062.hp2
NA18953.hp2
NA18970.hp1
NA19062.hp2
intron_variant MODIFIER c.59-3114C>G
c.59-3114C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468777
chr20:31468836 C
C
T
T
5 a0001c0001t0002g0059
a0001c0001t0002g0095
a0001c0001t0002g0096
others(2): Show 
a0001c0001t0002g0059
a0001c0001t0002g0095
a0001c0001t0002g0096
a0002c0003t0002g0020
a0002c0003t0002g0056
6 HG01109.hp1
HG02109.hp2
HG02809.hp2
others(3): Show 
HG01109.hp1
HG02109.hp2
HG02809.hp2
HG03041.hp1
NA19043.hp1
NA19240.hp1
intron_variant MODIFIER c.59-3173G>A
c.59-3173G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468836
chr20:31468896 G
G
A
A
1 a0001c0001t0002g0095
a0001c0001t0002g0095
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.59-3233C>T
c.59-3233C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468896
chr20:31468915 T
T
C
C
122 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(119): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0002c0003t0002g0020
a0002c0003t0002g0056
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
162 HG00280.hp1
HG00323.hp2
HG00408.hp2
others(159): Show 
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.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
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.59-3252A>G
c.59-3252A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468915
chr20:31468921 G
G
A
A
12 a0001c0001t0002g0026
a0001c0001t0002g0075
a0001c0001t0002g0098
others(9): Show 
a0001c0001t0002g0026
a0001c0001t0002g0075
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0143
a0001c0001t0002g0144
13 HG00323.hp2
HG01123.hp2
HG01192.hp1
others(10): Show 
HG00323.hp2
HG01123.hp2
HG01192.hp1
HG01257.hp1
HG01346.hp2
HG01433.hp1
HG02523.hp2
HG03139.hp2
HG04199.hp2
HG04204.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.59-3258C>T
c.59-3258C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31468921
chr20:31469204 C
C
A
A
2 a0002c0003t0002g0020
a0002c0003t0002g0056
a0002c0003t0002g0020
a0002c0003t0002g0056
3 HG02109.hp2
HG03041.hp1
NA19043.hp1
HG02109.hp2
HG03041.hp1
NA19043.hp1
intron_variant MODIFIER c.59-3541G>T
c.59-3541G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469204
chr20:31469252 G
G
A
A
2 a0001c0001t0001g0039
a0001c0001t0001g0186
a0001c0001t0001g0039
a0001c0001t0001g0186
3 HG00558.hp1
NA18612.hp1
NA18992.hp1
HG00558.hp1
NA18612.hp1
NA18992.hp1
intron_variant MODIFIER c.59-3589C>T
c.59-3589C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469252
chr20:31469348 G
G
C
C
1 a0001c0001t0002g0107
a0001c0001t0002g0107
1 NA18906.hp2
NA18906.hp2
intron_variant MODIFIER c.58+3608C>G
c.58+3608C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469348
chr20:31469389 C
C
T
T
1 a0001c0001t0002g0097
a0001c0001t0002g0097
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.58+3567G>A
c.58+3567G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469389
chr20:31469451 T
T
A
A
1 a0001c0001t0001g0166
a0001c0001t0001g0166
1 HG02074.hp1
HG02074.hp1
intron_variant MODIFIER c.58+3505A>T
c.58+3505A>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469451
chr20:31469501 G
G
C
C
105 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(102): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
143 HG00280.hp1
HG00408.hp2
HG00438.hp1
others(140): Show 
HG00280.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.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.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.58+3455C>G
c.58+3455C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469501
chr20:31469540 G
G
A
A
1 a0001c0001t0002g0066
a0001c0001t0002g0066
1 HG04184.hp1
HG04184.hp1
intron_variant MODIFIER c.58+3416C>T
c.58+3416C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469540
chr20:31469549 A
A
T
T
1 a0001c0001t0001g0193
a0001c0001t0001g0193
1 HG02683.hp2
HG02683.hp2
intron_variant MODIFIER c.58+3407T>A
c.58+3407T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469549
chr20:31469555 G
G
A
A
2 a0001c0001t0001g0047
a0001c0001t0001g0161
a0001c0001t0001g0047
a0001c0001t0001g0161
3 HG02717.hp1
HG02886.hp1
HG03540.hp1
HG02717.hp1
HG02886.hp1
HG03540.hp1
intron_variant MODIFIER c.58+3401C>T
c.58+3401C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469555
chr20:31469601 A
A
C
C
5 a0001c0001t0002g0059
a0001c0001t0002g0095
a0001c0001t0002g0096
others(2): Show 
a0001c0001t0002g0059
a0001c0001t0002g0095
a0001c0001t0002g0096
a0002c0003t0002g0020
a0002c0003t0002g0056
6 HG01109.hp1
HG02109.hp2
HG02809.hp2
others(3): Show 
HG01109.hp1
HG02109.hp2
HG02809.hp2
HG03041.hp1
NA19043.hp1
NA19240.hp1
intron_variant MODIFIER c.58+3355T>G
c.58+3355T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469601
chr20:31469655 C
C
G
G
1 a0001c0001t0001g0195
a0001c0001t0001g0195
1 HG03669.hp1
HG03669.hp1
intron_variant MODIFIER c.58+3301G>C
c.58+3301G>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469655
chr20:31469655 C
C
T
T
1 a0001c0001t0002g0097
a0001c0001t0002g0097
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.58+3301G>A
c.58+3301G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469655
chr20:31469718 A
A
C
C
2 a0002c0003t0002g0020
a0002c0003t0002g0056
a0002c0003t0002g0020
a0002c0003t0002g0056
3 HG02109.hp2
HG03041.hp1
NA19043.hp1
HG02109.hp2
HG03041.hp1
NA19043.hp1
intron_variant MODIFIER c.58+3238T>G
c.58+3238T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469718
chr20:31469757 G
G
T
T
1 a0001c0001t0001g0167
a0001c0001t0001g0167
1 NA18942.hp2
NA18942.hp2
intron_variant MODIFIER c.58+3199C>A
c.58+3199C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469757
chr20:31469772 C
C
T
T
1 a0001c0001t0001g0183
a0001c0001t0001g0183
1 HG02148.hp1
HG02148.hp1
intron_variant MODIFIER c.58+3184G>A
c.58+3184G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469772
chr20:31469863 C
C
T
T
1 a0001c0001t0002g0097
a0001c0001t0002g0097
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.58+3093G>A
c.58+3093G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469863
chr20:31469872 T
T
C
C
1 a0001c0001t0002g0058
a0001c0001t0002g0058
1 HG00741.hp1
HG00741.hp1
intron_variant MODIFIER c.58+3084A>G
c.58+3084A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469872
chr20:31469896 C
C
T
T
103 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(100): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
141 HG00280.hp1
HG00408.hp2
HG00438.hp1
others(138): Show 
HG00280.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.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.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.58+3060G>A
c.58+3060G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469896
chr20:31469897 C
C
T
T
1 a0001c0001t0002g0102
a0001c0001t0002g0102
1 HG02523.hp2
HG02523.hp2
intron_variant MODIFIER c.58+3059G>A
c.58+3059G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469897
chr20:31469903 T
T
C
C
122 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(119): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0002c0003t0002g0020
a0002c0003t0002g0056
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
162 HG00280.hp1
HG00323.hp2
HG00408.hp2
others(159): Show 
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.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
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+3053A>G
c.58+3053A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469903
chr20:31469937 C
C
A
A
1 a0001c0001t0002g0066
a0001c0001t0002g0066
1 HG04184.hp1
HG04184.hp1
intron_variant MODIFIER c.58+3019G>T
c.58+3019G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31469937
chr20:31470023 G
G
A
A
1 a0001c0001t0002g0134
a0001c0001t0002g0134
1 NA19240.hp2
NA19240.hp2
intron_variant MODIFIER c.58+2933C>T
c.58+2933C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470023
chr20:31470034 G
G
T
T
7 a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0077
others(4): Show 
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0085
a0001c0001t0002g0088
7 HG00733.hp2
HG00735.hp1
HG01168.hp2
others(4): Show 
HG00733.hp2
HG00735.hp1
HG01168.hp2
HG01358.hp1
HG03710.hp1
NA20129.hp2
NA20805.hp2
intron_variant MODIFIER c.58+2922C>A
c.58+2922C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470034
chr20:31470036 CGCCCCTC
others(120): Show 
CGCCCCTCACCTCCCGGACGGGGCGGCTGGACGGGCAGGGGGCTGACCCC
CCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGCGGGGCGCCTCAC
TTCCTAGTAGGGGCGGCCGGGCAGAGGT
C
C
38 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
others(35): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
56 HG00280.hp1
HG00738.hp1
HG01069.hp1
others(53): Show 
HG00280.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01975.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03834.hp1
HG06807.hp2
NA19030.hp1
NA20905.hp2
intron_variant MODIFIER c.58+2793_58+2919del
c.58+2793_58+2919del
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470036
chr20:31470050 C
C
T
T
1 a0001c0001t0002g0059
a0001c0001t0002g0059
1 NA19240.hp1
NA19240.hp1
intron_variant MODIFIER c.58+2906G>A
c.58+2906G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470050
chr20:31470056 G
G
GGGCGGCT
others(42): Show 
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAA
11 a0001c0001t0002g0026
a0001c0001t0002g0098
a0001c0001t0002g0099
others(8): Show 
a0001c0001t0002g0026
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0143
a0001c0001t0002g0144
12 HG00323.hp2
HG01123.hp2
HG01192.hp1
others(9): Show 
HG00323.hp2
HG01123.hp2
HG01192.hp1
HG01257.hp1
HG01346.hp2
HG01433.hp1
HG02523.hp2
HG03139.hp2
HG04199.hp2
HG04204.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+2899_58+2900ins
others(49): Show 
c.58+2899_58+2900insTTGTCCAGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470056
chr20:31470057 GGCGGCTG
others(42): Show 
GGCGGCTGGACGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGA
G
G
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2850_58+2898del
others(49): Show 
c.58+2850_58+2898delTCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCTGCCCGTCCAGCCGC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470057
chr20:31470101 G
G
A
A
1 a0001c0001t0001g0178
a0001c0001t0001g0178
1 HG03516.hp1
HG03516.hp1
intron_variant MODIFIER c.58+2855C>T
c.58+2855C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470101
chr20:31470123 C
C
A
A
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2833G>T
c.58+2833G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470123
chr20:31470123 C
C
T
T
7 a0001c0001t0002g0058
a0001c0001t0002g0090
a0001c0001t0002g0091
others(4): Show 
a0001c0001t0002g0058
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
7 HG00741.hp1
HG02818.hp1
HG02976.hp2
others(4): Show 
HG00741.hp1
HG02818.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp2
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.58+2833G>A
c.58+2833G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470123
chr20:31470128 C
C
T
T
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2828G>A
c.58+2828G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470128
chr20:31470129 G
G
T
T
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2827C>A
c.58+2827C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470129
chr20:31470140 T
T
C
C
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2816A>G
c.58+2816A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470140
chr20:31470154 G
G
C
C
41 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
others(38): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0053
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0108
57 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(54): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG01168.hp2
HG01255.hp2
HG01358.hp1
HG01928.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02486.hp1
HG02698.hp1
HG03041.hp2
HG03654.hp2
HG03710.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.58+2802C>G
c.58+2802C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470154
chr20:31470163 T
T
C
C
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2793A>G
c.58+2793A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470163
chr20:31470174 T
T
C
C
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2782A>G
c.58+2782A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470174
chr20:31470187 G
G
A
A
1 a0001c0001t0001g0176
a0001c0001t0001g0176
1 HG01106.hp2
HG01106.hp2
intron_variant MODIFIER c.58+2769C>T
c.58+2769C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470187
chr20:31470194 C
C
T
T
2 a0001c0001t0002g0005
a0001c0001t0002g0021
a0001c0001t0002g0005
a0001c0001t0002g0021
8 HG02040.hp2
NA18954.hp2
NA18957.hp1
others(5): Show 
HG02040.hp2
NA18954.hp2
NA18957.hp1
NA18973.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp1
NA19086.hp1
intron_variant MODIFIER c.58+2762G>A
c.58+2762G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470194
chr20:31470197 GCGGGGGG
others(5): Show 
GCGGGGGGCTGAC
G
G
1 a0001c0001t0001g0156
a0001c0001t0001g0156
1 HG03927.hp2
HG03927.hp2
intron_variant MODIFIER c.58+2747_58+2758del
others(12): Show 
c.58+2747_58+2758delGTCAGCCCCCCG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470197
chr20:31470198 C
C
T
T
1 a0001c0001t0002g0054
a0001c0001t0002g0054
1 HG01361.hp1
HG01361.hp1
intron_variant MODIFIER c.58+2758G>A
c.58+2758G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470198
chr20:31470226 T
T
C
C
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2730A>G
c.58+2730A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470226
chr20:31470231 A
A
G
G
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2725T>C
c.58+2725T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470231
chr20:31470232 A
A
G
G
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2724T>C
c.58+2724T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470232
chr20:31470258 C
C
G
G
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2698G>C
c.58+2698G>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470258
chr20:31470284 C
C
T
T
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2672G>A
c.58+2672G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470284
chr20:31470293 G
G
T
T
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2663C>A
c.58+2663C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470293
chr20:31470304 T
T
C
C
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2652A>G
c.58+2652A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470304
chr20:31470326 G
G
A
A
4 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
others(1): Show 
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
4 HG02976.hp2
HG03098.hp2
HG03209.hp2
others(1): Show 
HG02976.hp2
HG03098.hp2
HG03209.hp2
NA18906.hp1
intron_variant MODIFIER c.58+2630C>T
c.58+2630C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470326
chr20:31470329 C
C
T
T
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2627G>A
c.58+2627G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470329
chr20:31470349 C
C
T
T
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2607G>A
c.58+2607G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470349
chr20:31470350 C
C
T
T
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2606G>A
c.58+2606G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470350
chr20:31470357 C
C
CGGGGTGG
others(13): Show 
CGGGGTGGCTGGCCGGGCGGG
2 a0001c0001t0001g0046
a0001c0001t0001g0180
a0001c0001t0001g0046
a0001c0001t0001g0180
3 HG01099.hp1
HG02257.hp1
HG03654.hp1
HG01099.hp1
HG02257.hp1
HG03654.hp1
intron_variant MODIFIER c.58+2579_58+2598dup
others(20): Show 
c.58+2579_58+2598dupCCCGCCCGGCCAGCCACCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470357
chr20:31470357 C
C
CGGGGTGG
others(14): Show 
CGGGGTGGCTGGCCGGGCGGGG
2 a0001c0001t0001g0171
a0001c0001t0001g0179
a0001c0001t0001g0171
a0001c0001t0001g0179
2 HG03491.hp2
HG03927.hp1
HG03491.hp2
HG03927.hp1
intron_variant MODIFIER c.58+2578_58+2598dup
others(21): Show 
c.58+2578_58+2598dupCCCCGCCCGGCCAGCCACCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470357
chr20:31470362 T
T
C
C
103 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(100): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
141 HG00280.hp1
HG00408.hp2
HG00438.hp1
others(138): Show 
HG00280.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.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.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.58+2594A>G
c.58+2594A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470362
chr20:31470398 C
C
A
A
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2558G>T
c.58+2558G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470398
chr20:31470401 C
C
CCGGACGG
others(120): Show 
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGAGCCCCCCACCTCCCTCC
CGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCTGGGCAGAGGCGCCCCTCACTTCA
1 a0001c0001t0002g0083
a0001c0001t0002g0083
1 NA18947.hp1
NA18947.hp1
intron_variant MODIFIER c.58+2554_58+2555ins
others(127): Show 
c.58+2554_58+2555insTGAAGTGAGGGGCGCCTCTGCCCAGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCACCCCGTCCGGG
AGGGAGGTGGGGGGCTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470401
chr20:31470401 C
C
CCGGACGG
others(120): Show 
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCCCTCC
CGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCTGGGCAGAGGCGCCCCTCACTTCA
34 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
others(31): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0053
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0065
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0108
50 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(47): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG01168.hp2
HG01255.hp2
HG01928.hp2
HG02040.hp2
HG02055.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02486.hp1
HG02698.hp1
HG03041.hp2
HG03654.hp2
HG03710.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.58+2554_58+2555ins
others(127): Show 
c.58+2554_58+2555insTGAAGTGAGGGGCGCCTCTGCCCAGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCACCCCGTCCGGG
AGGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470401
chr20:31470401 C
C
CCGGACGG
others(120): Show 
CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCCCTCC
CGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCTGGGTAGAGGCGCCCCTCACTTCA
1 a0001c0001t0002g0077
a0001c0001t0002g0077
1 HG01358.hp1
HG01358.hp1
intron_variant MODIFIER c.58+2554_58+2555ins
others(127): Show 
c.58+2554_58+2555insTGAAGTGAGGGGCGCCTCTACCCAGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCACCCCGTCCGGG
AGGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470401
chr20:31470407 G
G
A
A
1 a0001c0001t0001g0182
a0001c0001t0001g0182
1 HG03831.hp1
HG03831.hp1
intron_variant MODIFIER c.58+2549C>T
c.58+2549C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470407
chr20:31470411 C
C
CGGCTGGC
others(120): Show 
CGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCCCTCCCGGACGGGGT
GGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCA
GAGGCGCCCCTCACTTCACGGACGGGGT
1 a0001c0001t0002g0087
a0001c0001t0002g0087
1 NA18955.hp1
NA18955.hp1
intron_variant MODIFIER c.58+2544_58+2545ins
others(127): Show 
c.58+2544_58+2545insACCCCGTCCGTGAAGTGAGGGGCGCCTCTG
CCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCAC
CCCGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470411
chr20:31470411 C
C
T
T
1 a0001c0001t0001g0160
a0001c0001t0001g0160
1 NA18982.hp1
NA18982.hp1
intron_variant MODIFIER c.58+2545G>A
c.58+2545G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470411
chr20:31470423 C
C
CGGGGGGC
others(121): Show 
CGGGGGGCTGAGCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC
ACTTCACGGACGGGGCGGCTGGCCGGGCG
1 a0001c0001t0002g0076
a0001c0001t0002g0076
1 HG02056.hp2
HG02056.hp2
intron_variant MODIFIER c.58+2532_58+2533ins
others(128): Show 
c.58+2532_58+2533insCGCCCGGCCAGCCGCCCCGTCCGTGAAGTG
AGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470423
chr20:31470434 G
G
C
C
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2522C>G
c.58+2522C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470434
chr20:31470434 G
G
GCCCCCCA
others(122): Show 
GCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACTTCACGGAC
GGGGCGGCTGGCCGGGCGGGGGGGCTGAGC
1 a0001c0001t0002g0086
a0001c0001t0002g0086
1 NA19087.hp1
NA19087.hp1
intron_variant MODIFIER c.58+2521_58+2522ins
others(129): Show 
c.58+2521_58+2522insGCTCAGCCCCCCCGCCCGGCCAGCCGCCCC
GTCCGTGAAGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470434
chr20:31470438 CCCACCTC
others(115): Show 
CCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACTTCCCGGACGGGG
CGGCTGGCCGGGCGGGGGGCTGA
C
C
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2396_58+2517del
c.58+2396_58+2517del
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470438
chr20:31470454 A
A
T
T
4 a0001c0001t0002g0099
a0001c0001t0002g0101
a0001c0001t0002g0103
others(1): Show 
a0001c0001t0002g0099
a0001c0001t0002g0101
a0001c0001t0002g0103
a0001c0001t0002g0104
4 HG00323.hp2
HG01192.hp1
HG01257.hp1
others(1): Show 
HG00323.hp2
HG01192.hp1
HG01257.hp1
HG01346.hp2
intron_variant MODIFIER c.58+2502T>A
c.58+2502T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470454
chr20:31470455 C
C
CGGGGGTG
others(121): Show 
CGGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CTGGGCAGAGGCGCCCCTCACTTCACGGACGGGGCGGCTGGCCGGGCGGG
GGGCTGAGCCCCCCACCTCCCTCCCGGAC
1 a0001c0001t0002g0064
a0001c0001t0002g0064
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.58+2500_58+2501ins
others(128): Show 
c.58+2500_58+2501insGTCCGGGAGGGAGGTGGGGGGCTCAGCCCC
CCGCCCGGCCAGCCGCCCCGTCCGTGAAGTGAGGGGCGCCTCTGCCCAGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCACCCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470455
chr20:31470478 G
G
C
C
1 a0001c0001t0001g0152
a0001c0001t0001g0152
1 HG00140.hp1
HG00140.hp1
intron_variant MODIFIER c.58+2478C>G
c.58+2478C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470478
chr20:31470495 T
T
A
A
1 a0001c0001t0002g0129
a0001c0001t0002g0129
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.58+2461A>T
c.58+2461A>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470495
chr20:31470571 A
A
C
C
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2385T>G
c.58+2385T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470571
chr20:31470580 G
G
A
A
1 a0001c0001t0002g0124
a0001c0001t0002g0124
1 HG01496.hp1
HG01496.hp1
intron_variant MODIFIER c.58+2376C>T
c.58+2376C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470580
chr20:31470596 C
C
T
T
4 a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0095
others(1): Show 
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0095
a0001c0001t0002g0096
4 HG00741.hp1
HG01109.hp1
HG02809.hp2
others(1): Show 
HG00741.hp1
HG01109.hp1
HG02809.hp2
NA19240.hp1
intron_variant MODIFIER c.58+2360G>A
c.58+2360G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470596
chr20:31470606 A
A
AC
AC
40 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0008
others(37): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0162
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0002g0058
a0001c0001t0002g0093
a0001c0001t0002g0096
a0002c0003t0002g0020
a0002c0003t0002g0056
72 HG00140.hp2
HG00408.hp1
HG00597.hp2
others(69): Show 
HG00140.hp2
HG00408.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01175.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp2
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp2
HG02735.hp2
HG02809.hp2
HG03017.hp1
HG03041.hp1
HG03209.hp2
HG03239.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp2
NA18943.hp1
NA18950.hp2
NA18957.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18971.hp1
NA18973.hp2
NA18975.hp2
NA18980.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18998.hp1
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19084.hp1
NA19084.hp2
intron_variant MODIFIER c.58+2349dupG
c.58+2349dupG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470606
chr20:31470610 C
C
CCCCCCAC
others(40): Show 
CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA
6 a0001c0001t0002g0084
a0001c0001t0002g0107
a0001c0001t0002g0130
others(3): Show 
a0001c0001t0002g0084
a0001c0001t0002g0107
a0001c0001t0002g0130
a0001c0001t0002g0147
a0003c0002t0002g0118
a0003c0002t0002g0119
6 HG02165.hp1
HG02922.hp1
HG03225.hp1
others(3): Show 
HG02165.hp1
HG02922.hp1
HG03225.hp1
HG03471.hp1
HG06807.hp2
NA18906.hp2
intron_variant MODIFIER c.58+2345_58+2346ins
others(47): Show 
c.58+2345_58+2346insTCAGCCCCCCGCCCGGCCAGCCGCCCTGTC
CGGGAGGGAGGTGGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470610
chr20:31470610 C
C
CCCCCCCA
others(41): Show 
CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA
78 a0001c0001t0002g0005
a0001c0001t0002g0007
a0001c0001t0002g0011
others(75): Show 
a0001c0001t0002g0005
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0108
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0148
a0003c0002t0002g0117
109 HG00280.hp1
HG00323.hp2
HG00438.hp1
others(106): Show 
HG00280.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04228.hp1
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+2345_58+2346ins
others(48): Show 
c.58+2345_58+2346insTCAGCCCCCCGCCCGGCCAGCCGCCCTGTC
CGGGAGGGAGGTGGGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470610
chr20:31470610 C
C
CCCCCCCA
others(41): Show 
CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGA
3 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0122
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0122
6 HG01891.hp1
HG02723.hp2
HG02818.hp2
others(3): Show 
HG01891.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG03195.hp2
intron_variant MODIFIER c.58+2345_58+2346ins
others(48): Show 
c.58+2345_58+2346insTCAGCCCCCCACCCGGCCAGCCGCCCTGTC
CGGGAGGGAGGTGGGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470610
chr20:31470628 C
C
CGGACAGG
others(42): Show 
CGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCT
8 a0001c0001t0002g0006
a0001c0001t0002g0063
a0001c0001t0002g0065
others(5): Show 
a0001c0001t0002g0006
a0001c0001t0002g0063
a0001c0001t0002g0065
a0001c0001t0002g0067
a0001c0001t0002g0073
a0001c0001t0002g0085
a0001c0001t0002g0115
a0001c0001t0002g0123
9 HG00408.hp2
HG00544.hp2
HG00735.hp1
others(6): Show 
HG00408.hp2
HG00544.hp2
HG00735.hp1
HG01928.hp2
HG02280.hp2
HG02976.hp1
HG04115.hp2
HG04204.hp2
NA18970.hp2
intron_variant MODIFIER c.58+2327_58+2328ins
others(49): Show 
c.58+2327_58+2328insAGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCTGTCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470628
chr20:31470628 C
C
CGGACAGG
others(42): Show 
CGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCT
1 a0001c0001t0002g0121
a0001c0001t0002g0121
1 HG02809.hp1
HG02809.hp1
intron_variant MODIFIER c.58+2327_58+2328ins
others(49): Show 
c.58+2327_58+2328insAGGAGGGAGGTGGGGGGGTCAGCCCCCCAC
CCGGCCAGCCGCCCTGTCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470628
chr20:31470628 C
C
T
T
88 a0001c0001t0002g0005
a0001c0001t0002g0007
a0001c0001t0002g0011
others(85): Show 
a0001c0001t0002g0005
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0122
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
122 HG00280.hp1
HG00323.hp2
HG00438.hp1
others(119): Show 
HG00280.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+2328G>A
c.58+2328G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470628
chr20:31470649 C
C
CGGGGGGC
others(42): Show 
CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAGGGCAGCTGGCCGGGT
6 a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0095
others(3): Show 
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0095
a0001c0001t0002g0096
a0002c0003t0002g0020
a0002c0003t0002g0056
7 HG00741.hp1
HG01109.hp1
HG02109.hp2
others(4): Show 
HG00741.hp1
HG01109.hp1
HG02109.hp2
HG02809.hp2
HG03041.hp1
NA19043.hp1
NA19240.hp1
intron_variant MODIFIER c.58+2306_58+2307ins
others(49): Show 
c.58+2306_58+2307insACCCGGCCAGCTGCCCTGTCCAGGAGGGAG
GTGGGGGGGTCAGCCCCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470649
chr20:31470649 C
C
CGGGGGGC
others(42): Show 
CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGT
29 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0002g0006
a0001c0001t0002g0028
a0001c0001t0002g0055
a0001c0001t0002g0066
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0086
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0094
a0001c0001t0002g0097
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0135
a0001c0001t0003g0052
41 HG00099.hp1
HG00140.hp1
HG00544.hp1
others(38): Show 
HG00099.hp1
HG00140.hp1
HG00544.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01884.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02155.hp1
HG02523.hp2
HG02559.hp1
HG02735.hp2
HG02976.hp2
HG03098.hp2
HG03516.hp1
HG03540.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18977.hp1
NA19087.hp1
NA19090.hp1
NA20752.hp1
NA20905.hp1
intron_variant MODIFIER c.58+2306_58+2307ins
others(49): Show 
c.58+2306_58+2307insACCCGGCCAGCCGCCCTGTCCAGGAGGGAG
GTGGGGGGGTCAGCCCCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470649
chr20:31470649 C
C
CGGGGGGC
others(43): Show 
CGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGG
T
1 a0001c0001t0002g0093
a0001c0001t0002g0093
1 HG03209.hp2
HG03209.hp2
intron_variant MODIFIER c.58+2306_58+2307ins
others(50): Show 
c.58+2306_58+2307insACCCGGCCAGCCGCCCTGTCCAGGAGGGAG
GTGGGGGGGGTCAGCCCCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470649
chr20:31470649 C
C
CGGGGGGG
others(43): Show 
CGGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGG
T
1 a0001c0001t0002g0064
a0001c0001t0002g0064
1 NA18953.hp2
NA18953.hp2
intron_variant MODIFIER c.58+2306_58+2307ins
others(50): Show 
c.58+2306_58+2307insACCCGGCCAGCCGCCCTGTCCAGGAGGGAG
GTGGGGGGGTCAGCCCCCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470649
chr20:31470649 C
C
T
T
97 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(94): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0065
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
132 HG00280.hp1
HG00323.hp2
HG00408.hp2
others(129): Show 
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+2307G>A
c.58+2307G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470649
chr20:31470714 C
C
T
T
1 a0001c0001t0001g0049
a0001c0001t0001g0049
2 HG02027.hp1
NA19054.hp1
HG02027.hp1
NA19054.hp1
intron_variant MODIFIER c.58+2242G>A
c.58+2242G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470714
chr20:31470718 C
C
T
T
2 a0002c0003t0002g0020
a0002c0003t0002g0056
a0002c0003t0002g0020
a0002c0003t0002g0056
3 HG02109.hp2
HG03041.hp1
NA19043.hp1
HG02109.hp2
HG03041.hp1
NA19043.hp1
intron_variant MODIFIER c.58+2238G>A
c.58+2238G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470718
chr20:31470727 G
G
A
A
6 a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0095
others(3): Show 
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0095
a0001c0001t0002g0096
a0002c0003t0002g0020
a0002c0003t0002g0056
7 HG00741.hp1
HG01109.hp1
HG02109.hp2
others(4): Show 
HG00741.hp1
HG01109.hp1
HG02109.hp2
HG02809.hp2
HG03041.hp1
NA19043.hp1
NA19240.hp1
intron_variant MODIFIER c.58+2229C>T
c.58+2229C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470727
chr20:31470729 A
A
C
C
1 a0001c0001t0001g0175
a0001c0001t0001g0175
1 NA18968.hp2
NA18968.hp2
intron_variant MODIFIER c.58+2227T>G
c.58+2227T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470729
chr20:31470735 T
T
TGGCTGGC
others(293): Show 
TGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGC
AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGTGCTG
ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
GCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCTGGGCAGAAGCGCCCCTCACTTCCCGGAC
GGGGCGGCTGGCCGGGCAGGGGGCTGACCTCACCTCCCTCCCGGACGGGG
C
2 a0001c0001t0002g0005
a0001c0001t0002g0021
a0001c0001t0002g0005
a0001c0001t0002g0021
8 HG02040.hp2
NA18954.hp2
NA18957.hp1
others(5): Show 
HG02040.hp2
NA18954.hp2
NA18957.hp1
NA18973.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp1
NA19086.hp1
intron_variant MODIFIER c.58+1921_58+2220dup
others(300): Show 
c.58+1921_58+2220dupGCCCCGTCCGGGAGGGAGGTGAGGTCAGCC
CCCTGCCCGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCTTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCACCCCG
TCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGATCAGCACCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCTGGCCAGCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470735
chr20:31470765 C
C
T
T
1 a0001c0001t0002g0139
a0001c0001t0002g0139
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.58+2191G>A
c.58+2191G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470765
chr20:31470798 A
A
ACCCCGTC
others(18): Show 
ACCCCGTCCCCGCGGGGGGCGGGGAC
1 a0001c0001t0001g0189
a0001c0001t0001g0189
1 HG00597.hp2
HG00597.hp2
intron_variant MODIFIER c.58+2157_58+2158ins
others(25): Show 
c.58+2157_58+2158insGTCCCCGCCCCCCGCGGGGACGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470798
chr20:31470805 G
G
A
A
6 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
others(3): Show 
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
6 HG02818.hp1
HG02976.hp2
HG03098.hp2
others(3): Show 
HG02818.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp2
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.58+2151C>T
c.58+2151C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470805
chr20:31470807 A
A
C
C
1 a0001c0001t0001g0189
a0001c0001t0001g0189
1 HG00597.hp2
HG00597.hp2
intron_variant MODIFIER c.58+2149T>G
c.58+2149T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470807
chr20:31470808 C
C
T
T
2 a0002c0003t0002g0020
a0002c0003t0002g0056
a0002c0003t0002g0020
a0002c0003t0002g0056
3 HG02109.hp2
HG03041.hp1
NA19043.hp1
HG02109.hp2
HG03041.hp1
NA19043.hp1
intron_variant MODIFIER c.58+2148G>A
c.58+2148G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470808
chr20:31470826 G
G
A
A
3 a0001c0001t0002g0038
a0001c0001t0002g0085
a0001c0001t0002g0145
a0001c0001t0002g0038
a0001c0001t0002g0085
a0001c0001t0002g0145
4 HG00735.hp1
HG02257.hp2
HG02258.hp2
others(1): Show 
HG00735.hp1
HG02257.hp2
HG02258.hp2
HG02922.hp2
intron_variant MODIFIER c.58+2130C>T
c.58+2130C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470826
chr20:31470864 G
G
T
T
39 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
others(36): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
57 HG00280.hp1
HG00738.hp1
HG01069.hp1
others(54): Show 
HG00280.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01975.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03834.hp1
HG06807.hp2
NA19030.hp1
NA20905.hp2
intron_variant MODIFIER c.58+2092C>A
c.58+2092C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470864
chr20:31470877 G
G
A
A
1 a0001c0001t0001g0187
a0001c0001t0001g0187
1 HG00639.hp1
HG00639.hp1
intron_variant MODIFIER c.58+2079C>T
c.58+2079C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470877
chr20:31470906 C
C
T
T
2 a0001c0001t0002g0055
a0001c0001t0002g0092
a0001c0001t0002g0055
a0001c0001t0002g0092
2 HG02559.hp1
NA18522.hp1
HG02559.hp1
NA18522.hp1
intron_variant MODIFIER c.58+2050G>A
c.58+2050G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470906
chr20:31470917 G
G
A
A
2 a0001c0001t0001g0051
a0001c0001t0001g0197
a0001c0001t0001g0051
a0001c0001t0001g0197
3 HG02074.hp2
NA18989.hp2
NA19004.hp2
HG02074.hp2
NA18989.hp2
NA19004.hp2
intron_variant MODIFIER c.58+2039C>T
c.58+2039C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31470917
chr20:31471027 G
G
A
A
1 a0001c0001t0002g0062
a0001c0001t0002g0062
1 HG00438.hp2
HG00438.hp2
intron_variant MODIFIER c.58+1929C>T
c.58+1929C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471027
chr20:31471030 C
C
T
T
2 a0001c0001t0002g0134
a0001c0001t0002g0139
a0001c0001t0002g0134
a0001c0001t0002g0139
2 HG03579.hp2
NA19240.hp2
HG03579.hp2
NA19240.hp2
intron_variant MODIFIER c.58+1926G>A
c.58+1926G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471030
chr20:31471049 G
G
GGGGGCTG
others(25): Show 
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGT
10 a0001c0001t0002g0026
a0001c0001t0002g0098
a0001c0001t0002g0099
others(7): Show 
a0001c0001t0002g0026
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0143
a0001c0001t0002g0144
11 HG00323.hp2
HG01123.hp2
HG01257.hp1
others(8): Show 
HG00323.hp2
HG01123.hp2
HG01257.hp1
HG01346.hp2
HG01433.hp1
HG02523.hp2
HG03139.hp2
HG04199.hp2
HG04204.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+1906_58+1907ins
others(32): Show 
c.58+1906_58+1907insACGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471049
chr20:31471049 G
G
GGGGGCTG
others(26): Show 
GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGT
1 a0001c0001t0002g0101
a0001c0001t0002g0101
1 HG01192.hp1
HG01192.hp1
intron_variant MODIFIER c.58+1874_58+1906dup
others(33): Show 
c.58+1874_58+1906dupACGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471049
chr20:31471057 A
A
AC
AC
17 a0001c0001t0001g0044
a0001c0001t0001g0154
a0001c0001t0001g0162
others(14): Show 
a0001c0001t0001g0044
a0001c0001t0001g0154
a0001c0001t0001g0162
a0001c0001t0001g0169
a0001c0001t0001g0189
a0001c0001t0002g0070
a0001c0001t0002g0072
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0120
a0001c0001t0002g0123
a0001c0001t0002g0131
18 HG00280.hp1
HG00597.hp1
HG00597.hp2
others(15): Show 
HG00280.hp1
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG01175.hp2
HG01192.hp2
HG01516.hp1
HG01934.hp2
HG02056.hp1
HG02280.hp2
HG02818.hp1
HG02976.hp2
HG03098.hp2
HG03710.hp1
HG03831.hp2
HG04115.hp1
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.58+1898dupG
c.58+1898dupG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471057
chr20:31471136 T
T
C
C
6 a0001c0001t0002g0027
a0001c0001t0002g0109
a0001c0001t0002g0110
others(3): Show 
a0001c0001t0002g0027
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0131
7 HG00280.hp1
HG01069.hp1
HG01070.hp1
others(4): Show 
HG00280.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01192.hp2
HG01934.hp2
HG02300.hp1
intron_variant MODIFIER c.58+1820A>G
c.58+1820A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471136
chr20:31471139 A
A
AC
AC
14 a0001c0001t0001g0041
a0001c0001t0001g0157
a0001c0001t0001g0162
others(11): Show 
a0001c0001t0001g0041
a0001c0001t0001g0157
a0001c0001t0001g0162
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0002g0057
a0001c0001t0002g0071
a0001c0001t0002g0086
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0114
a0001c0001t0002g0145
15 HG01192.hp1
HG01433.hp2
HG02056.hp1
others(12): Show 
HG01192.hp1
HG01433.hp2
HG02056.hp1
HG02258.hp2
HG03098.hp1
HG03688.hp1
HG03688.hp2
HG03927.hp1
HG04204.hp1
HG04228.hp2
NA18989.hp1
NA18998.hp2
NA19087.hp1
NA19090.hp2
NA20805.hp2
intron_variant MODIFIER c.58+1816dupG
c.58+1816dupG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471139
chr20:31471229 G
G
A
A
6 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
others(3): Show 
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
6 HG02818.hp1
HG02976.hp2
HG03098.hp2
others(3): Show 
HG02818.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp2
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.58+1727C>T
c.58+1727C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471229
chr20:31471278 ACCTCCCG
others(91): Show 
ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTC
A
A
1 a0001c0001t0002g0097
a0001c0001t0002g0097
1 NA18522.hp2
NA18522.hp2
intron_variant MODIFIER c.58+1580_58+1677del
others(98): Show 
c.58+1580_58+1677delGAGGTGGGGGGGTCAGCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471278
chr20:31471301 C
C
T
T
4 a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0121
others(1): Show 
a0001c0001t0002g0012
a0001c0001t0002g0030
a0001c0001t0002g0121
a0001c0001t0002g0122
7 HG01891.hp1
HG02723.hp2
HG02809.hp1
others(4): Show 
HG01891.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG03195.hp2
intron_variant MODIFIER c.58+1655G>A
c.58+1655G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471301
chr20:31471302 G
G
A
A
2 a0001c0001t0002g0055
a0001c0001t0002g0092
a0001c0001t0002g0055
a0001c0001t0002g0092
2 HG02559.hp1
NA18522.hp1
HG02559.hp1
NA18522.hp1
intron_variant MODIFIER c.58+1654C>T
c.58+1654C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471302
chr20:31471315 A
A
AC
AC
14 a0001c0001t0001g0154
a0001c0001t0001g0157
a0001c0001t0001g0159
others(11): Show 
a0001c0001t0001g0154
a0001c0001t0001g0157
a0001c0001t0001g0159
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0192
a0001c0001t0002g0062
a0001c0001t0002g0070
a0001c0001t0002g0093
a0001c0001t0002g0096
a0001c0001t0002g0109
a0001c0001t0002g0114
14 HG00438.hp2
HG01175.hp2
HG01192.hp2
others(11): Show 
HG00438.hp2
HG01175.hp2
HG01192.hp2
HG01934.hp1
HG02056.hp1
HG02809.hp2
HG03098.hp1
HG03209.hp2
HG03490.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp2
NA18975.hp2
NA18991.hp2
intron_variant MODIFIER c.58+1640dupG
c.58+1640dupG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471315
chr20:31471316 CCCCCCCC
others(41): Show 
CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA
C
C
14 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0166
others(11): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0002g0026
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0143
a0001c0001t0002g0144
17 HG00323.hp2
HG01123.hp2
HG01192.hp1
others(14): Show 
HG00323.hp2
HG01123.hp2
HG01192.hp1
HG01257.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG02074.hp1
HG02300.hp2
HG02523.hp2
HG03139.hp2
HG04199.hp2
NA18942.hp2
NA18943.hp2
NA18964.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+1592_58+1639del
others(48): Show 
c.58+1592_58+1639delTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471316
chr20:31471317 CCCCCCCA
others(40): Show 
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA
C
C
9 a0001c0001t0002g0036
a0001c0001t0002g0133
a0001c0001t0002g0134
others(6): Show 
a0001c0001t0002g0036
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0148
10 HG02145.hp2
HG02451.hp1
HG02630.hp2
others(7): Show 
HG02145.hp2
HG02451.hp1
HG02630.hp2
HG02896.hp2
HG03486.hp1
HG03579.hp2
HG06807.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp2
intron_variant MODIFIER c.58+1592_58+1638del
others(47): Show 
c.58+1592_58+1638delTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471317
chr20:31471318 CCCCCCAC
others(39): Show 
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA
C
C
7 a0001c0001t0002g0014
a0001c0001t0002g0037
a0001c0001t0002g0054
others(4): Show 
a0001c0001t0002g0014
a0001c0001t0002g0037
a0001c0001t0002g0054
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
10 HG01109.hp2
HG01167.hp2
HG01361.hp1
others(7): Show 
HG01109.hp2
HG01167.hp2
HG01361.hp1
HG01891.hp2
HG02486.hp2
HG02647.hp1
HG02647.hp2
HG02970.hp1
HG02970.hp2
HG03579.hp1
intron_variant MODIFIER c.58+1592_58+1637del
others(46): Show 
c.58+1592_58+1637delTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471318
chr20:31471319 C
C
T
T
1 a0001c0001t0001g0168
a0001c0001t0001g0168
1 NA18953.hp1
NA18953.hp1
intron_variant MODIFIER c.58+1637G>A
c.58+1637G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471319
chr20:31471355 C
C
CG
CG
165 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(162): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0003g0052
a0002c0003t0002g0020
a0002c0003t0002g0056
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
320 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(317): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.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
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.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
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
intron_variant MODIFIER c.58+1600dupC
c.58+1600dupC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471355
chr20:31471355 C
C
CGGGGGGC
others(43): Show 
CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
G
1 a0001c0001t0002g0065
a0001c0001t0002g0065
1 HG01928.hp2
HG01928.hp2
intron_variant MODIFIER c.58+1600_58+1601ins
others(50): Show 
c.58+1600_58+1601insCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGTCAGCCCCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471355
chr20:31471356 GGGGGCTG
others(40): Show 
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
G
G
1 a0001c0001t0002g0100
a0001c0001t0002g0100
1 HG04204.hp1
HG04204.hp1
intron_variant MODIFIER c.58+1553_58+1599del
others(47): Show 
c.58+1553_58+1599delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGTCAGCCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471356
chr20:31471403 C
C
T
T
2 a0002c0003t0002g0020
a0002c0003t0002g0056
a0002c0003t0002g0020
a0002c0003t0002g0056
3 HG02109.hp2
HG03041.hp1
NA19043.hp1
HG02109.hp2
HG03041.hp1
NA19043.hp1
intron_variant MODIFIER c.58+1553G>A
c.58+1553G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471403
chr20:31471451 GCGGGGGA
others(26): Show 
GCGGGGGACTGACCCCCCCCACCTCCCTCCCGGA
G
G
1 a0001c0001t0001g0040
a0001c0001t0001g0040
2 NA18957.hp2
NA19004.hp1
NA18957.hp2
NA19004.hp1
intron_variant MODIFIER c.58+1472_58+1504del
others(33): Show 
c.58+1472_58+1504delTCCGGGAGGGAGGTGGGGGGGGTCAGTCCC
CCG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471451
chr20:31471458 A
A
G
G
104 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(101): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
142 HG00280.hp1
HG00408.hp2
HG00438.hp1
others(139): Show 
HG00280.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.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.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.58+1498T>C
c.58+1498T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471458
chr20:31471462 A
A
AC
AC
21 a0001c0001t0001g0018
a0001c0001t0001g0041
a0001c0001t0001g0158
others(18): Show 
a0001c0001t0001g0018
a0001c0001t0001g0041
a0001c0001t0001g0158
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0029
a0001c0001t0002g0055
a0001c0001t0002g0058
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0092
a0001c0001t0002g0100
a0001c0001t0002g0105
a0001c0001t0002g0109
a0001c0001t0002g0120
25 HG00408.hp1
HG00408.hp2
HG00558.hp2
others(22): Show 
HG00408.hp1
HG00408.hp2
HG00558.hp2
HG00621.hp2
HG00741.hp1
HG01099.hp2
HG01192.hp2
HG01516.hp1
HG01934.hp1
HG02056.hp1
HG02559.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18947.hp2
NA18973.hp2
NA18981.hp2
NA18991.hp1
NA18998.hp1
NA19030.hp2
intron_variant MODIFIER c.58+1493dupG
c.58+1493dupG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471462
chr20:31471489 GGGCTGAC
others(42): Show 
GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGA
G
G
1 a0001c0001t0001g0160
a0001c0001t0001g0160
1 NA18982.hp1
NA18982.hp1
intron_variant MODIFIER c.58+1418_58+1466del
others(49): Show 
c.58+1418_58+1466delTCCTGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471489
chr20:31471496 CCCCCCCA
others(42): Show 
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGAGGCTGAT
C
C
1 a0001c0001t0001g0199
a0001c0001t0001g0199
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.58+1411_58+1459del
others(49): Show 
c.58+1411_58+1459delATCAGCCTCCTGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471496
chr20:31471499 C
C
T
T
1 a0001c0001t0001g0161
a0001c0001t0001g0161
1 HG03540.hp1
HG03540.hp1
intron_variant MODIFIER c.58+1457G>A
c.58+1457G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471499
chr20:31471513 C
C
T
T
1 a0001c0001t0002g0090
a0001c0001t0002g0090
1 HG03098.hp2
HG03098.hp2
intron_variant MODIFIER c.58+1443G>A
c.58+1443G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471513
chr20:31471535 A
A
G
G
27 a0001c0001t0002g0014
a0001c0001t0002g0026
a0001c0001t0002g0036
others(24): Show 
a0001c0001t0002g0014
a0001c0001t0002g0026
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0054
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0148
32 HG00323.hp2
HG01109.hp2
HG01123.hp2
others(29): Show 
HG00323.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01891.hp2
HG02145.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03139.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+1421T>C
c.58+1421T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471535
chr20:31471588 C
C
T
T
2 a0001c0001t0002g0011
a0001c0001t0002g0065
a0001c0001t0002g0011
a0001c0001t0002g0065
4 HG01255.hp2
HG01928.hp2
NA18956.hp1
others(1): Show 
HG01255.hp2
HG01928.hp2
NA18956.hp1
NA19079.hp2
intron_variant MODIFIER c.58+1368G>A
c.58+1368G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471588
chr20:31471652 A
A
G
G
122 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(119): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0002c0003t0002g0020
a0002c0003t0002g0056
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
162 HG00280.hp1
HG00323.hp2
HG00408.hp2
others(159): Show 
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.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
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+1304T>C
c.58+1304T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471652
chr20:31471688 G
G
T
T
1 a0001c0001t0002g0095
a0001c0001t0002g0095
1 HG01109.hp1
HG01109.hp1
intron_variant MODIFIER c.58+1268C>A
c.58+1268C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471688
chr20:31471723 C
C
CG
CG
6 a0001c0001t0001g0154
a0001c0001t0001g0158
a0001c0001t0001g0159
others(3): Show 
a0001c0001t0001g0154
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0002g0064
a0001c0001t0002g0095
a0001c0001t0002g0100
6 HG01109.hp1
HG01175.hp2
HG04204.hp1
others(3): Show 
HG01109.hp1
HG01175.hp2
HG04204.hp1
NA18953.hp2
NA18991.hp2
NA19030.hp2
intron_variant MODIFIER c.58+1232dupC
c.58+1232dupC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471723
chr20:31471823 C
C
T
T
1 a0001c0001t0001g0157
a0001c0001t0001g0157
1 HG04228.hp2
HG04228.hp2
intron_variant MODIFIER c.58+1133G>A
c.58+1133G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471823
chr20:31471890 C
C
A
A
6 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
others(3): Show 
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
6 HG02818.hp1
HG02976.hp2
HG03098.hp2
others(3): Show 
HG02818.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp2
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.58+1066G>T
c.58+1066G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471890
chr20:31471976 A
A
G
G
2 a0001c0001t0002g0055
a0001c0001t0002g0092
a0001c0001t0002g0055
a0001c0001t0002g0092
2 HG02559.hp1
NA18522.hp1
HG02559.hp1
NA18522.hp1
intron_variant MODIFIER c.58+980T>C
c.58+980T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471976
chr20:31471977 C
C
T
T
41 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
others(38): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0053
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0108
57 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(54): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG01168.hp2
HG01255.hp2
HG01358.hp1
HG01928.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02486.hp1
HG02698.hp1
HG03041.hp2
HG03654.hp2
HG03710.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.58+979G>A
c.58+979G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471977
chr20:31471995 C
C
CG
CG
14 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0039
others(11): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0039
a0001c0001t0001g0048
a0001c0001t0001g0189
a0001c0001t0002g0054
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0098
a0001c0001t0002g0100
a0001c0001t0002g0109
a0001c0001t0002g0113
a0001c0001t0002g0132
a0001c0001t0002g0133
20 HG00423.hp2
HG00438.hp2
HG00558.hp1
others(17): Show 
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG01109.hp2
HG01192.hp2
HG01361.hp1
HG01978.hp1
HG01978.hp2
HG02080.hp2
HG02145.hp2
HG02698.hp2
HG02897.hp1
HG03139.hp2
HG04204.hp1
HG04204.hp2
NA18948.hp1
NA18992.hp1
NA18992.hp2
intron_variant MODIFIER c.58+960dupC
c.58+960dupC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471995
chr20:31471995 C
C
T
T
1 a0001c0001t0002g0061
a0001c0001t0002g0061
1 NA18974.hp2
NA18974.hp2
intron_variant MODIFIER c.58+961G>A
c.58+961G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31471995
chr20:31472008 G
G
A
A
1 a0001c0001t0002g0037
a0001c0001t0002g0037
2 HG02486.hp2
HG02970.hp2
HG02486.hp2
HG02970.hp2
intron_variant MODIFIER c.58+948C>T
c.58+948C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472008
chr20:31472051 C
C
T
T
1 a0001c0001t0002g0060
a0001c0001t0002g0060
1 HG02698.hp1
HG02698.hp1
intron_variant MODIFIER c.58+905G>A
c.58+905G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472051
chr20:31472200 A
A
T
T
102 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(99): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
140 HG00280.hp1
HG00408.hp2
HG00438.hp1
others(137): Show 
HG00280.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.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.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.58+756T>A
c.58+756T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472200
chr20:31472230 A
A
G
G
3 a0001c0001t0001g0156
a0001c0001t0002g0055
a0001c0001t0002g0092
a0001c0001t0001g0156
a0001c0001t0002g0055
a0001c0001t0002g0092
3 HG02559.hp1
HG03927.hp2
NA18522.hp1
HG02559.hp1
HG03927.hp2
NA18522.hp1
intron_variant MODIFIER c.58+726T>C
c.58+726T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472230
chr20:31472368 G
G
C
C
40 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
others(37): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0139
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
58 HG00280.hp1
HG00738.hp1
HG01069.hp1
others(55): Show 
HG00280.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01975.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp2
HG03834.hp1
HG06807.hp2
NA19030.hp1
NA20905.hp2
intron_variant MODIFIER c.58+588C>G
c.58+588C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472368
chr20:31472373 G
G
A
A
1 a0001c0001t0001g0188
a0001c0001t0001g0188
1 NA19074.hp2
NA19074.hp2
intron_variant MODIFIER c.58+583C>T
c.58+583C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472373
chr20:31472373 G
G
C
C
41 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
others(38): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0053
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0108
57 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(54): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG01168.hp2
HG01255.hp2
HG01358.hp1
HG01928.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02486.hp1
HG02698.hp1
HG03041.hp2
HG03654.hp2
HG03710.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
intron_variant MODIFIER c.58+583C>G
c.58+583C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472373
chr20:31472389 A
A
C
C
179 a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0008
others(176): Show 
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0001c0001t0003g0052
a0002c0003t0002g0020
a0002c0003t0002g0056
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
307 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(304): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.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
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18989.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19002.hp1
NA19004.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+567T>G
c.58+567T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472389
chr20:31472418 AGGGAGAG
others(21): Show 
AGGGAGAGGGGAGAGGGGAGAAGGGAGAG
A
A
1 a0001c0001t0002g0105
a0001c0001t0002g0105
1 HG04199.hp2
HG04199.hp2
intron_variant MODIFIER c.58+510_58+537delCT
others(26): Show 
c.58+510_58+537delCTCTCCCTTCTCCCCTCTCCCCTCTCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472418
chr20:31472425 GGGGAGAG
others(7): Show 
GGGGAGAGGGGAGAA
G
G
1 a0001c0001t0001g0155
a0001c0001t0001g0155
1 NA19002.hp2
NA19002.hp2
intron_variant MODIFIER c.58+517_58+530delTT
others(12): Show 
c.58+517_58+530delTTCTCCCCTCTCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472425
chr20:31472432 G
G
C
C
2 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0090
a0001c0001t0002g0091
2 HG03098.hp2
NA18906.hp1
HG03098.hp2
NA18906.hp1
intron_variant MODIFIER c.58+524C>G
c.58+524C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472432
chr20:31472439 A
A
AGGGAGAG
AGGGAGAG
61 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
others(58): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0053
a0001c0001t0002g0057
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0148
80 HG00323.hp2
HG00408.hp2
HG00438.hp1
others(77): Show 
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00735.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01433.hp1
HG01928.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02698.hp1
HG02818.hp1
HG02896.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19086.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+510_58+516dupCT
others(5): Show 
c.58+510_58+516dupCTCTCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472439
chr20:31472439 A
A
AGGGAGAG
others(7): Show 
AGGGAGAGGGGAGAG
2 a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0098
a0001c0001t0002g0099
2 HG01346.hp2
HG03139.hp2
HG01346.hp2
HG03139.hp2
intron_variant MODIFIER c.58+503_58+516dupCT
others(12): Show 
c.58+503_58+516dupCTCTCCCCTCTCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472439
chr20:31472439 A
A
AGGGAGAG
others(14): Show 
AGGGAGAGGGGAGAGGGGAGAG
1 a0001c0001t0001g0154
a0001c0001t0001g0154
1 HG01175.hp2
HG01175.hp2
intron_variant MODIFIER c.58+496_58+516dupCT
others(19): Show 
c.58+496_58+516dupCTCTCCCCTCTCCCCTCTCCC
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472439
chr20:31472541 C
C
G
G
1 a0001c0001t0001g0153
a0001c0001t0001g0153
1 HG01106.hp1
HG01106.hp1
intron_variant MODIFIER c.58+415G>C
c.58+415G>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472541
chr20:31472712 T
T
G
G
121 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(118): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0002c0003t0002g0020
a0002c0003t0002g0056
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
161 HG00280.hp1
HG00323.hp2
HG00408.hp2
others(158): Show 
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.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
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+244A>C
c.58+244A>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472712
chr20:31472759 C
C
T
T
4 a0001c0001t0001g0015
a0001c0001t0001g0150
a0001c0001t0001g0151
others(1): Show 
a0001c0001t0001g0015
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
6 HG00140.hp1
HG01074.hp1
HG01168.hp1
others(3): Show 
HG00140.hp1
HG01074.hp1
HG01168.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
intron_variant MODIFIER c.58+197G>A
c.58+197G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472759
chr20:31472917 G
G
GCA
GCA
65 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
others(62): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0011
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0026
a0001c0001t0002g0036
a0001c0001t0002g0053
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0147
a0001c0001t0002g0148
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
83 HG00323.hp2
HG00408.hp2
HG00438.hp1
others(80): Show 
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01928.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02630.hp2
HG02698.hp1
HG02896.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.58+37_58+38dupTG
c.58+37_58+38dupTG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472917
chr20:31472917 G
G
GCACA
GCACA
10 a0001c0001t0002g0037
a0001c0001t0002g0055
a0001c0001t0002g0090
others(7): Show 
a0001c0001t0002g0037
a0001c0001t0002g0055
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0140
11 HG02486.hp2
HG02559.hp1
HG02818.hp1
others(8): Show 
HG02486.hp2
HG02559.hp1
HG02818.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03209.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
intron_variant MODIFIER c.58+35_58+38dupTGTG
c.58+35_58+38dupTGTG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472917
chr20:31472917 G
G
GCACACA
GCACACA
41 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
others(38): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0054
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0145
a0001c0001t0002g0146
61 HG00280.hp1
HG00738.hp1
HG01069.hp1
others(58): Show 
HG00280.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03834.hp1
NA19030.hp1
NA20905.hp2
intron_variant MODIFIER c.58+33_58+38dupTGTG
others(2): Show 
c.58+33_58+38dupTGTGTG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472917
chr20:31472917 G
G
GCACACAC
others(3): Show 
GCACACACACA
1 a0002c0003t0002g0056
a0002c0003t0002g0056
1 HG03041.hp1
HG03041.hp1
intron_variant MODIFIER c.58+29_58+38dupTGTG
others(6): Show 
c.58+29_58+38dupTGTGTGTGTG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472917
chr20:31472917 G
G
GCACACAC
others(5): Show 
GCACACACACACA
1 a0002c0003t0002g0020
a0002c0003t0002g0020
2 HG02109.hp2
NA19043.hp1
HG02109.hp2
NA19043.hp1
intron_variant MODIFIER c.58+27_58+38dupTGTG
others(8): Show 
c.58+27_58+38dupTGTGTGTGTGTG
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 2/2 chr20 31472917
chr20:31473248 G
G
C
C
1 a0001c0001t0002g0096
a0001c0001t0002g0096
1 HG02809.hp2
HG02809.hp2
intron_variant MODIFIER c.-25-210C>G
c.-25-210C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473248
chr20:31473250 A
A
G
G
110 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
others(107): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0011
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0083
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0001c0001t0002g0148
a0002c0003t0002g0020
a0002c0003t0002g0056
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
149 HG00280.hp1
HG00408.hp2
HG00438.hp1
others(146): Show 
HG00280.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.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.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18957.hp1
NA18970.hp1
NA18970.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18998.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19062.hp2
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
intron_variant MODIFIER c.-25-212T>C
c.-25-212T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473250
chr20:31473270 G
G
A
A
2 a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0106
a0001c0001t0002g0107
2 HG02818.hp1
NA18906.hp2
HG02818.hp1
NA18906.hp2
intron_variant MODIFIER c.-25-232C>T
c.-25-232C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473270
chr20:31473293 A
A
G
G
8 a0001c0001t0002g0007
a0001c0001t0002g0028
a0001c0001t0002g0038
others(5): Show 
a0001c0001t0002g0007
a0001c0001t0002g0028
a0001c0001t0002g0038
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0145
14 HG01884.hp1
HG02055.hp2
HG02257.hp2
others(11): Show 
HG01884.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03486.hp2
HG03516.hp2
intron_variant MODIFIER c.-25-255T>C
c.-25-255T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473293
chr20:31473545 A
A
C
C
2 a0001c0001t0002g0005
a0001c0001t0002g0021
a0001c0001t0002g0005
a0001c0001t0002g0021
8 HG02040.hp2
NA18954.hp2
NA18957.hp1
others(5): Show 
HG02040.hp2
NA18954.hp2
NA18957.hp1
NA18973.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp1
NA19086.hp1
intron_variant MODIFIER c.-25-507T>G
c.-25-507T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473545
chr20:31473650 C
C
T
T
5 a0001c0001t0002g0027
a0001c0001t0002g0109
a0001c0001t0002g0110
others(2): Show 
a0001c0001t0002g0027
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
6 HG01069.hp1
HG01070.hp1
HG01071.hp1
others(3): Show 
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01192.hp2
HG01934.hp2
HG02300.hp1
intron_variant MODIFIER c.-25-612G>A
c.-25-612G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473650
chr20:31473812 T
T
A
A
1 a0001c0001t0002g0108
a0001c0001t0002g0108
1 NA18952.hp1
NA18952.hp1
intron_variant MODIFIER c.-25-774A>T
c.-25-774A>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473812
chr20:31473892 C
C
G
G
39 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
others(36): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
57 HG00280.hp1
HG00738.hp1
HG01069.hp1
others(54): Show 
HG00280.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01975.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03834.hp1
HG06807.hp2
NA19030.hp1
NA20905.hp2
intron_variant MODIFIER c.-26+735G>C
c.-26+735G>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473892
chr20:31473908 C
C
T
T
2 a0002c0003t0002g0020
a0002c0003t0002g0056
a0002c0003t0002g0020
a0002c0003t0002g0056
3 HG02109.hp2
HG03041.hp1
NA19043.hp1
HG02109.hp2
HG03041.hp1
NA19043.hp1
intron_variant MODIFIER c.-26+719G>A
c.-26+719G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473908
chr20:31473909 G
G
A
A
39 a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
others(36): Show 
a0001c0001t0002g0007
a0001c0001t0002g0012
a0001c0001t0002g0013
a0001c0001t0002g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0122
a0001c0001t0002g0123
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0145
a0001c0001t0002g0146
a0001c0001t0002g0147
a0003c0002t0002g0117
a0003c0002t0002g0118
a0003c0002t0002g0119
57 HG00280.hp1
HG00738.hp1
HG01069.hp1
others(54): Show 
HG00280.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01975.hp1
HG02055.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03834.hp1
HG06807.hp2
NA19030.hp1
NA20905.hp2
intron_variant MODIFIER c.-26+718C>T
c.-26+718C>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473909
chr20:31473986 C
C
T
T
1 a0001c0001t0002g0055
a0001c0001t0002g0055
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.-26+641G>A
c.-26+641G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31473986
chr20:31474018 T
T
G
G
16 a0001c0001t0002g0014
a0001c0001t0002g0036
a0001c0001t0002g0037
others(13): Show 
a0001c0001t0002g0014
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0054
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0137
a0001c0001t0002g0138
a0001c0001t0002g0139
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0142
a0001c0001t0002g0148
20 HG01109.hp2
HG01167.hp2
HG01361.hp1
others(17): Show 
HG01109.hp2
HG01167.hp2
HG01361.hp1
HG01891.hp2
HG02145.hp2
HG02451.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp2
intron_variant MODIFIER c.-26+609A>C
c.-26+609A>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474018
chr20:31474095 T
T
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+532A>C
c.-26+532A>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474095
chr20:31474097 C
C
A
A
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+530G>T
c.-26+530G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474097
chr20:31474098 C
C
A
A
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+529G>T
c.-26+529G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474098
chr20:31474102 T
T
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+525A>C
c.-26+525A>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474102
chr20:31474103 T
T
A
A
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+524A>T
c.-26+524A>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474103
chr20:31474104 C
C
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+523G>C
c.-26+523G>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474104
chr20:31474108 C
C
A
A
2 a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0143
a0001c0001t0002g0144
2 HG01123.hp2
NA20752.hp2
HG01123.hp2
NA20752.hp2
intron_variant MODIFIER c.-26+519G>T
c.-26+519G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474108
chr20:31474108 C
C
T
T
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+519G>A
c.-26+519G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474108
chr20:31474109 T
T
C
C
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+518A>G
c.-26+518A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474109
chr20:31474111 T
T
C
C
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+516A>G
c.-26+516A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474111
chr20:31474113 G
G
C
C
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+514C>G
c.-26+514C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474113
chr20:31474115 A
A
C
C
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+512T>G
c.-26+512T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474115
chr20:31474118 A
A
C
C
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+509T>G
c.-26+509T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474118
chr20:31474120 A
A
C
C
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+507T>G
c.-26+507T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474120
chr20:31474121 G
G
C
C
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+506C>G
c.-26+506C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474121
chr20:31474122 A
A
T
T
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+505T>A
c.-26+505T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474122
chr20:31474124 A
A
C
C
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+503T>G
c.-26+503T>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474124
chr20:31474125 A
A
T
T
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+502T>A
c.-26+502T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474125
chr20:31474128 A
A
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+499T>C
c.-26+499T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474128
chr20:31474129 A
A
T
T
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+498T>A
c.-26+498T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474129
chr20:31474130 A
A
T
T
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+497T>A
c.-26+497T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474130
chr20:31474131 A
A
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+496T>C
c.-26+496T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474131
chr20:31474132 G
G
T
T
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+495C>A
c.-26+495C>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474132
chr20:31474134 T
T
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+493A>C
c.-26+493A>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474134
chr20:31474137 T
T
C
C
2 a0001c0001t0002g0038
a0001c0001t0002g0145
a0001c0001t0002g0038
a0001c0001t0002g0145
3 HG02257.hp2
HG02258.hp2
HG02922.hp2
HG02257.hp2
HG02258.hp2
HG02922.hp2
intron_variant MODIFIER c.-26+490A>G
c.-26+490A>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474137
chr20:31474137 T
T
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+490A>C
c.-26+490A>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474137
chr20:31474138 T
T
A
A
1 a0001c0001t0002g0146
a0001c0001t0002g0146
1 NA19030.hp1
NA19030.hp1
intron_variant MODIFIER c.-26+489A>T
c.-26+489A>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474138
chr20:31474139 A
A
T
T
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+488T>A
c.-26+488T>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474139
chr20:31474141 C
C
A
A
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+486G>T
c.-26+486G>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474141
chr20:31474142 A
A
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+485T>C
c.-26+485T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474142
chr20:31474146 GTGTAAGC
others(4): Show 
GTGTAAGCTGTT
G
G
1 a0001c0001t0001g0200
a0001c0001t0001g0200
1 HG02293.hp1
HG02293.hp1
intron_variant MODIFIER c.-26+470_-26+480del
others(11): Show 
c.-26+470_-26+480delAACAGCTTACA
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474146
chr20:31474231 G
G
C
C
1 a0001c0001t0002g0147
a0001c0001t0002g0147
1 HG06807.hp2
HG06807.hp2
intron_variant MODIFIER c.-26+396C>G
c.-26+396C>G
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474231
chr20:31474242 A
A
G
G
1 a0001c0001t0002g0054
a0001c0001t0002g0054
1 HG01361.hp1
HG01361.hp1
intron_variant MODIFIER c.-26+385T>C
c.-26+385T>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474242
chr20:31474289 C
C
T
T
1 a0001c0001t0001g0149
a0001c0001t0001g0149
1 HG02293.hp2
HG02293.hp2
intron_variant MODIFIER c.-26+338G>A
c.-26+338G>A
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474289
chr20:31474441 C
C
G
G
1 a0001c0001t0002g0053
a0001c0001t0002g0053
1 HG03654.hp2
HG03654.hp2
intron_variant MODIFIER c.-26+186G>C
c.-26+186G>C
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474441
chr20:31474620 T
T
A
A
1 a0001c0001t0002g0148
a0001c0001t0002g0148
1 HG02630.hp2
HG02630.hp2
splice_region_variant&intron_variant LOW c.-26+7A>T
c.-26+7A>T
DEFB124 ENSG00000180383.4 transcript ENST00000317676.3 protein_coding 1/2 chr20 31474620

  • 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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