JoGo LogoJoint Open Genome and Omics Platform (JoGo)
  • Home
    • General
    • Gene
    • Region
    • Variant
    • Haplotype
    • Haplotype by sample
    • ClinVar
    • GWASCatalog
    • GTEx
    • HaplotypeQTL
    • Haplotype
    • Position
    • Clinvar
    • Gene
    • Variant
    • Haplotype
    • Sample
    • FAQ
    • Contact
    • Fundings
    • Developer
    • ChIP-Atlas PeakBrowser
    • ToGoVAR
    • MGeND
    • Nagasaki Lab

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   DEFB107A_chr8_7806720_7820716  DEFB107A_chr8_7806720_7820716 (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 245910
ensemblid ENSG00000186572.2
hgncid 18086
symbol DEFB107A
name defensin beta 107A
refseq_nuc NM_001037668.1
refseq_prot NP_001032757.2
ensembl_nuc ENST00000335021.2
ensembl_prot ENSP00000334681.2
mane_status MANE Select
chr chr8
start 7811720
end 7815716
strand -
ver v1.2
region chr8:7811720-7815716
region5000 chr8:7806720-7820716
regionname0 DEFB107A_chr8_7811720_7815716
regionname5000 DEFB107A_chr8_7806720_7820716

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 70 126 28 18 67 7 6 48 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
a0002 0/0 70 44 10 10 19 1 4 16 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 213 126 28 18 67 7 6 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
c0002 0/0 213 44 10 10 19 1 4 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 177 124 31 12 69 5 7 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
t0002 0/0 177 43 6 16 15 3 3 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
t0003 0/0 177 2 0 0 2 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
t0004 0/0 177 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 20 1 2 15 1 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0002 0/0 12 0 3 8 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0003 0/0 8 0 2 6 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0004 0/0 6 0 5 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0005 0/0 6 0 4 1 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0006 0/0 6 0 1 5 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0007 0/0 4 0 1 2 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0008 0/0 3 0 2 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0009 0/0 3 0 0 3 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0010 0/0 3 0 0 3 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0011 0/0 3 0 0 1 0 2 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0012 0/0 3 0 0 3 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0013 0/0 3 0 1 1 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0014 0/0 3 3 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0015 0/0 3 0 0 3 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0016 0/0 2 2 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0017 0/0 2 0 0 2 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0018 0/0 2 0 0 2 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0019 0/0 2 0 0 2 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0020 0/0 2 2 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0021 0/0 2 0 1 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0022 0/0 2 0 0 1 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0023 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0024 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0025 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0026 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0027 0/0 1 0 0 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0028 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0029 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0030 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0031 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0032 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0033 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0034 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0035 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0036 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0037 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0038 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0039 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0040 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0041 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0042 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0043 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0044 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0045 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0046 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0047 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0048 0/0 1 0 0 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0049 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0050 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0051 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0052 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0053 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0054 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0055 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0056 0/0 1 0 0 0 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0057 0/0 1 0 0 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0058 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0059 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0060 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0061 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0062 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0063 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0064 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0065 0/0 1 0 0 0 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0066 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0067 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0068 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0069 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0070 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0071 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0072 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0073 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0074 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0075 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0076 0/0 1 0 0 0 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0077 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0078 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0079 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0080 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0081 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0082 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0083 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0084 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0085 0/0 1 0 0 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0086 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0087 0/0 1 0 0 0 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0088 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0089 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0090 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0091 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
g0092 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 213 126 28 18 67 7 6 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
a0002c0002 0/0 213 44 10 10 19 1 4 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 389 93 24 10 51 4 4 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
a0001c0001t0002 0/0 389 31 4 8 14 3 2 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
a0001c0001t0003 0/0 389 2 0 0 2 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
a0002c0002t0001 0/0 389 31 7 2 18 1 3 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
a0002c0002t0002 0/0 389 12 2 8 1 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716
a0002c0002t0004 0/0 389 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A copy fasta chr8 7806720 7820716

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 20 1 2 15 1 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0002 0/0 12 0 3 8 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0003 0/0 8 0 2 6 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0007 0/0 4 0 1 2 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0014 0/0 3 3 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0015 0/0 3 0 0 3 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0018 0/0 2 0 0 2 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0019 0/0 2 0 0 2 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0020 0/0 2 2 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0040 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0041 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0042 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0043 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0044 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0046 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0047 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0048 0/0 1 0 0 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0049 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0051 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0052 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0053 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0055 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0056 0/0 1 0 0 0 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0057 0/0 1 0 0 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0058 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0062 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0064 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0065 0/0 1 0 0 0 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0067 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0069 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0070 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0072 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0073 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0077 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0079 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0080 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0083 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0088 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0089 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0001g0092 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0005 0/0 6 0 4 1 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0006 0/0 6 0 1 5 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0021 0/0 2 0 1 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0022 0/0 2 0 0 1 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0039 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0054 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0059 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0071 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0075 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0076 0/0 1 0 0 0 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0078 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0081 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0082 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0084 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0085 0/0 1 0 0 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0086 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0087 0/0 1 0 0 0 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0090 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0002g0091 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0003g0045 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0001c0001t0003g0063 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0009 0/0 3 0 0 3 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0010 0/0 3 0 0 3 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0011 0/0 3 0 0 1 0 2 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0012 0/0 3 0 0 3 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0013 0/0 3 0 1 1 1 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0016 0/0 2 2 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0017 0/0 2 0 0 2 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0023 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0025 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0027 0/0 1 0 0 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0028 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0030 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0031 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0032 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0033 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0034 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0035 0/0 1 0 0 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0037 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0001g0038 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0002g0004 0/0 6 0 5 1 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0002g0008 0/0 3 0 2 0 0 1 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0002g0024 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0002g0026 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0002g0036 0/0 1 0 1 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
a0002c0002t0004g0029 0/0 1 1 0 0 0 0 DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0001 t0001 g0001 EUR GBR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00140 hp2 a0001 c0001 t0002 g0005 EUR GBR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00280 hp1 a0001 c0001 t0002 g0087 EUR FIN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00280 hp2 a0001 c0001 t0001 g0056 EUR FIN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00323 hp1 a0001 c0001 t0001 g0007 EUR FIN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00323 hp2 a0001 c0001 t0001 g0065 EUR FIN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00423 hp1 a0001 c0001 t0001 g0001 EAS CHS DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00423 hp2 a0001 c0001 t0002 g0006 EAS CHS DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00544 hp1 a0001 c0001 t0001 g0015 EAS CHS DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00544 hp2 a0001 c0001 t0001 g0042 EAS CHS DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00609 hp1 a0001 c0001 t0001 g0003 EAS CHS DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00609 hp2 a0002 c0002 t0001 g0033 EAS CHS DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00621 hp1 a0001 c0001 t0001 g0002 EAS CHS DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00621 hp2 a0001 c0001 t0001 g0003 EAS CHS DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00639 hp1 a0001 c0001 t0001 g0002 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00639 hp2 a0001 c0001 t0002 g0005 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00738 hp1 a0001 c0001 t0001 g0007 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG00738 hp2 a0002 c0002 t0002 g0004 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01071 hp1 a0002 c0002 t0002 g0036 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01071 hp2 a0002 c0002 t0002 g0004 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01081 hp1 a0001 c0001 t0002 g0006 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01081 hp2 a0002 c0002 t0001 g0023 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01167 hp1 a0001 c0001 t0001 g0002 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01167 hp2 a0001 c0001 t0002 g0005 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01169 hp1 a0001 c0001 t0002 g0005 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01169 hp2 a0002 c0002 t0002 g0004 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01175 hp1 a0002 c0002 t0002 g0008 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01175 hp2 a0001 c0001 t0001 g0003 AMR PUR DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01255 hp1 a0001 c0001 t0001 g0001 AMR CLM DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01255 hp2 a0001 c0001 t0001 g0058 AMR CLM DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01261 hp1 a0002 c0002 t0002 g0004 AMR CLM DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01261 hp2 a0001 c0001 t0001 g0046 AMR CLM DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01358 hp1 a0002 c0002 t0002 g0008 AMR CLM DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01358 hp2 a0001 c0001 t0001 g0001 AMR CLM DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01934 hp1 a0001 c0001 t0002 g0084 AMR PEL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01934 hp2 a0001 c0001 t0001 g0003 AMR PEL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01981 hp1 a0001 c0001 t0001 g0002 AMR PEL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01981 hp2 a0001 c0001 t0002 g0081 AMR PEL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02040 hp1 a0001 c0001 t0001 g0002 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02040 hp2 a0001 c0001 t0002 g0006 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02055 hp1 a0001 c0001 t0002 g0090 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02055 hp2 a0002 c0002 t0002 g0026 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02080 hp1 a0001 c0001 t0002 g0021 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02080 hp2 a0001 c0001 t0001 g0015 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02083 hp1 a0001 c0001 t0001 g0001 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02083 hp2 a0001 c0001 t0001 g0001 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02129 hp1 a0002 c0002 t0002 g0004 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02129 hp2 a0001 c0001 t0001 g0007 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02132 hp1 a0002 c0002 t0001 g0010 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02132 hp2 a0001 c0001 t0001 g0002 EAS KHV DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02145 hp1 a0001 c0001 t0001 g0047 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02145 hp2 a0002 c0002 t0001 g0016 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02155 hp1 a0001 c0001 t0001 g0066 EAS CDX DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02155 hp2 a0001 c0001 t0002 g0006 EAS CDX DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02258 hp1 a0001 c0001 t0001 g0020 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02258 hp2 a0002 c0002 t0002 g0024 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02273 hp1 a0001 c0001 t0002 g0005 AMR PEL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02273 hp2 a0001 c0001 t0002 g0021 AMR PEL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02451 hp1 a0002 c0002 t0001 g0016 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02451 hp2 a0001 c0001 t0001 g0044 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02615 hp1 a0001 c0001 t0001 g0020 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02615 hp2 a0001 c0001 t0001 g0053 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02622 hp1 a0001 c0001 t0002 g0078 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02622 hp2 a0002 c0002 t0001 g0037 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02683 hp1 a0001 c0001 t0001 g0048 SAS PJL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02683 hp2 a0001 c0001 t0002 g0085 SAS PJL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02717 hp1 a0002 c0002 t0001 g0030 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02717 hp2 a0001 c0001 t0001 g0077 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02735 hp1 a0001 c0001 t0001 g0057 SAS PJL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02735 hp2 a0002 c0002 t0001 g0011 SAS PJL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02818 hp1 a0001 c0001 t0001 g0001 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02818 hp2 a0002 c0002 t0004 g0029 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02895 hp1 a0001 c0001 t0001 g0092 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02895 hp2 a0002 c0002 t0001 g0028 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02922 hp1 a0001 c0001 t0001 g0080 AFR ESN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02922 hp2 a0001 c0001 t0001 g0089 AFR ESN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02970 hp1 a0001 c0001 t0001 g0014 AFR ESN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02970 hp2 a0001 c0001 t0001 g0043 AFR ESN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02976 hp1 a0001 c0001 t0001 g0064 AFR ESN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02976 hp2 a0001 c0001 t0001 g0051 AFR ESN DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03041 hp1 a0001 c0001 t0001 g0014 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03041 hp2 a0001 c0001 t0001 g0055 AFR GWD DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03209 hp1 a0001 c0001 t0002 g0039 AFR MSL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03209 hp2 a0001 c0001 t0001 g0083 AFR MSL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03225 hp1 a0001 c0001 t0001 g0070 AFR MSL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03225 hp2 a0001 c0001 t0001 g0014 AFR MSL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03490 hp1 a0001 c0001 t0001 g0001 SAS PJL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03490 hp2 a0002 c0002 t0001 g0027 SAS PJL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03579 hp1 a0002 c0002 t0001 g0038 AFR MSL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03579 hp2 a0001 c0001 t0002 g0091 AFR MSL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03654 hp1 a0002 c0002 t0001 g0011 SAS PJL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03654 hp2 a0002 c0002 t0002 g0008 SAS PJL DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03942 hp1 a0001 c0001 t0001 g0002 SAS BEB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG03942 hp2 a0001 c0001 t0002 g0022 SAS BEB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18522 hp1 a0001 c0001 t0001 g0052 AFR YRI DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18522 hp2 a0001 c0001 t0001 g0079 AFR YRI DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18747 hp1 a0001 c0001 t0001 g0003 EAS CHB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18747 hp2 a0001 c0001 t0002 g0086 EAS CHB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18939 hp1 a0002 c0002 t0001 g0010 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18939 hp2 a0002 c0002 t0001 g0013 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18942 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18942 hp2 a0001 c0001 t0001 g0069 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18943 hp1 a0001 c0001 t0002 g0006 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18943 hp2 a0001 c0001 t0003 g0063 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18946 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18946 hp2 a0001 c0001 t0002 g0082 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18947 hp1 a0001 c0001 t0001 g0060 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18947 hp2 a0001 c0001 t0003 g0045 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18953 hp1 a0001 c0001 t0001 g0002 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18953 hp2 a0001 c0001 t0001 g0061 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18956 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18956 hp2 a0001 c0001 t0001 g0018 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18957 hp1 a0002 c0002 t0001 g0025 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18957 hp2 a0001 c0001 t0001 g0003 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18960 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18960 hp2 a0002 c0002 t0001 g0012 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18963 hp1 a0001 c0001 t0001 g0050 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18963 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18967 hp1 a0002 c0002 t0001 g0017 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18967 hp2 a0002 c0002 t0001 g0034 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18968 hp1 a0002 c0002 t0001 g0009 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18968 hp2 a0001 c0001 t0001 g0015 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18969 hp1 a0001 c0001 t0002 g0005 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18969 hp2 a0001 c0001 t0002 g0059 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18972 hp1 a0001 c0001 t0001 g0002 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18972 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18973 hp1 a0002 c0002 t0001 g0031 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18973 hp2 a0002 c0002 t0001 g0010 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18974 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18974 hp2 a0001 c0001 t0001 g0002 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18978 hp1 a0001 c0001 t0001 g0002 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18978 hp2 a0001 c0001 t0002 g0071 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18980 hp1 a0001 c0001 t0001 g0002 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18980 hp2 a0001 c0001 t0001 g0007 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18981 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18981 hp2 a0001 c0001 t0001 g0018 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18984 hp1 a0001 c0001 t0002 g0054 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18984 hp2 a0001 c0001 t0001 g0068 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18987 hp1 a0002 c0002 t0001 g0012 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18987 hp2 a0001 c0001 t0001 g0062 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18995 hp1 a0001 c0001 t0001 g0040 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18995 hp2 a0001 c0001 t0002 g0075 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18999 hp1 a0001 c0001 t0001 g0041 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA18999 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19003 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19003 hp2 a0001 c0001 t0001 g0019 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19054 hp1 a0001 c0001 t0001 g0074 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19054 hp2 a0002 c0002 t0001 g0017 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19078 hp1 a0002 c0002 t0001 g0012 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19078 hp2 a0001 c0001 t0001 g0003 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19080 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19080 hp2 a0001 c0001 t0001 g0067 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19081 hp1 a0002 c0002 t0001 g0009 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19081 hp2 a0001 c0001 t0001 g0019 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19084 hp1 a0001 c0001 t0001 g0073 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19084 hp2 a0001 c0001 t0001 g0003 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19088 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19088 hp2 a0001 c0001 t0002 g0006 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19089 hp1 a0002 c0002 t0001 g0009 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19089 hp2 a0002 c0002 t0001 g0035 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19090 hp1 a0002 c0002 t0001 g0011 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA19090 hp2 a0001 c0001 t0002 g0022 EAS JPT DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA20805 hp1 a0001 c0001 t0002 g0076 EUR TSI DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
NA20805 hp2 a0002 c0002 t0001 g0013 EUR TSI DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01123 hp1 a0002 c0002 t0001 g0013 AMR CLM DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG01123 hp2 a0002 c0002 t0002 g0004 AMR CLM DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02109 hp1 a0001 c0001 t0001 g0049 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG02109 hp2 a0002 c0002 t0001 g0032 AFR ACB DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG06807 hp1 a0001 c0001 t0001 g0072 AFR USA DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716
HG06807 hp2 a0001 c0001 t0001 g0088 AFR USA DEFB107A_chr8_7806720_7820716 DEFB107A chr8 7806720 7820716

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
chr8:7815604 C
C
 A
A
 1 a0001
a0001
 126 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(123): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01081.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03579.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18953.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19054.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 missense_variant MODERATE c.25G>T
c.25G>T
 p.Val9Phe
p.Val9Phe
 DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/2 113/389 25/213 9/70 chr8 7815604

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
chr8:7811736 A
A
 G
G
 2 a0001c0001t0002
a0002c0002t0002
a0001c0001t0002
a0002c0002t0002
 43 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp2
NA18969.hp1
NA18969.hp2
NA18978.hp2
NA18984.hp1
NA18995.hp2
NA19088.hp2
NA19090.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*72T>C
c.*72T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 2/2 72 chr8 7811736
chr8:7811786 T
T
 A
A
 1 a0001c0001t0003
a0001c0001t0003
 2 NA18943.hp2
NA18947.hp2
NA18943.hp2
NA18947.hp2
 3_prime_UTR_variant MODIFIER c.*22A>T
c.*22A>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 2/2 22 chr8 7811786
chr8:7811806 T
T
 G
G
 1 a0002c0002t0004
a0002c0002t0004
 1 HG02818.hp2
HG02818.hp2
 3_prime_UTR_variant MODIFIER c.*2A>C
c.*2A>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 2/2 2 chr8 7811806

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
chr8:7811967 A
A
 G
G
 20 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(17): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 39 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(36): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18943.hp1
NA18946.hp2
NA18969.hp1
NA18984.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-17T>C
c.71-17T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7811967
chr8:7812012 A
A
 C
C
 1 a0002c0002t0001g0035
a0002c0002t0001g0035
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.71-62T>G
c.71-62T>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812012
chr8:7812017 G
G
 A
A
 3 a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0086
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0086
 3 NA18747.hp2
NA18978.hp2
NA18995.hp2
NA18747.hp2
NA18978.hp2
NA18995.hp2
 intron_variant MODIFIER c.71-67C>T
c.71-67C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812017
chr8:7812024 C
C
 G
G
 1 a0001c0001t0002g0076
a0001c0001t0002g0076
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.71-74G>C
c.71-74G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812024
chr8:7812144 A
A
 G
G
 3 a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
 3 HG02922.hp1
HG03209.hp2
NA18522.hp2
HG02922.hp1
HG03209.hp2
NA18522.hp2
 intron_variant MODIFIER c.71-194T>C
c.71-194T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812144
chr8:7812169 T
T
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.71-219A>G
c.71-219A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812169
chr8:7812302 T
T
 C
C
 3 a0001c0001t0001g0014
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0014
a0001c0001t0001g0052
a0001c0001t0001g0053
 5 HG02615.hp2
HG02970.hp1
HG03041.hp1
others(2): Show 
HG02615.hp2
HG02970.hp1
HG03041.hp1
HG03225.hp2
NA18522.hp1
 intron_variant MODIFIER c.71-352A>G
c.71-352A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812302
chr8:7812406 G
G
 A
A
 3 a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0086
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0086
 3 NA18747.hp2
NA18978.hp2
NA18995.hp2
NA18747.hp2
NA18978.hp2
NA18995.hp2
 intron_variant MODIFIER c.71-456C>T
c.71-456C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812406
chr8:7812490 G
G
 A
A
 1 a0002c0002t0004g0029
a0002c0002t0004g0029
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.71-540C>T
c.71-540C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812490
chr8:7812526 C
C
 T
T
 23 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(20): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 42 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp2
NA18969.hp1
NA18978.hp2
NA18984.hp1
NA18995.hp2
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-576G>A
c.71-576G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812526
chr8:7812566 G
G
 A
A
 1 a0002c0002t0004g0029
a0002c0002t0004g0029
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.71-616C>T
c.71-616C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812566
chr8:7812578 T
T
 C
C
 20 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(17): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 39 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(36): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18943.hp1
NA18946.hp2
NA18969.hp1
NA18984.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-628A>G
c.71-628A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812578
chr8:7812666 T
T
 G
G
 14 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(11): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0054
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
 26 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(23): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG03579.hp2
HG03942.hp2
NA18943.hp1
NA18946.hp2
NA18969.hp1
NA18984.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-716A>C
c.71-716A>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812666
chr8:7812685 C
C
 A
A
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.71-735G>T
c.71-735G>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812685
chr8:7812781 A
A
 G
G
 3 a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0026
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0026
 10 HG00738.hp2
HG01071.hp2
HG01123.hp2
others(7): Show 
HG00738.hp2
HG01071.hp2
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02055.hp2
HG02129.hp1
HG03654.hp2
 intron_variant MODIFIER c.71-831T>C
c.71-831T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812781
chr8:7812801 A
A
 G
G
 30 a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0064
others(27): Show 
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0073
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0001g0023
a0002c0002t0001g0032
a0002c0002t0001g0035
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 49 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(46): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG02976.hp1
HG03209.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp2
NA18969.hp1
NA18978.hp2
NA18984.hp1
NA18995.hp2
NA19084.hp1
NA19088.hp2
NA19089.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-851T>C
c.71-851T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812801
chr8:7812898 C
C
 A
A
 10 a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
others(7): Show 
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0070
a0001c0001t0001g0077
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0027
 19 HG02132.hp1
HG02258.hp1
HG02615.hp1
others(16): Show 
HG02132.hp1
HG02258.hp1
HG02615.hp1
HG02717.hp2
HG02735.hp2
HG03225.hp1
HG03490.hp2
HG03654.hp1
NA18939.hp1
NA18960.hp2
NA18968.hp1
NA18973.hp2
NA18987.hp1
NA18995.hp1
NA18999.hp1
NA19078.hp1
NA19081.hp1
NA19089.hp1
NA19090.hp1
 intron_variant MODIFIER c.71-948G>T
c.71-948G>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812898
chr8:7812914 GAC
GAC
 G
G
 15 a0001c0001t0001g0058
a0001c0001t0001g0073
a0001c0001t0002g0005
others(12): Show 
a0001c0001t0001g0058
a0001c0001t0001g0073
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0054
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0087
a0002c0002t0001g0023
a0002c0002t0001g0032
a0002c0002t0001g0035
 18 HG00140.hp2
HG00280.hp1
HG01081.hp1
others(15): Show 
HG00140.hp2
HG00280.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp2
HG01255.hp2
HG01934.hp1
HG01981.hp2
HG02109.hp2
HG02155.hp2
HG02273.hp2
HG02622.hp1
HG03942.hp2
NA18943.hp1
NA18946.hp2
NA18984.hp1
NA19084.hp1
NA19089.hp2
 intron_variant MODIFIER c.71-966_71-965delGT
c.71-966_71-965delGT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812914
chr8:7812919 A
A
 ACACG
ACACG
 4 a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0085
others(1): Show 
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0085
a0001c0001t0002g0086
 4 HG02683.hp2
NA18747.hp2
NA18978.hp2
others(1): Show 
HG02683.hp2
NA18747.hp2
NA18978.hp2
NA18995.hp2
 intron_variant MODIFIER c.71-970_71-969insCG
others(2): Show 
c.71-970_71-969insCGTG
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812919
chr8:7812921 A
A
 ACG
ACG
 13 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(10): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0076
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 25 HG00423.hp2
HG00639.hp2
HG00738.hp2
others(22): Show 
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02258.hp2
HG02273.hp1
HG03209.hp1
HG03579.hp2
HG03654.hp2
NA18969.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-972_71-971insCG
c.71-972_71-971insCG
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812921
chr8:7812925 G
G
 A
A
 17 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(14): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 29 HG00423.hp2
HG00639.hp2
HG00738.hp2
others(26): Show 
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02258.hp2
HG02273.hp1
HG02683.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
NA18747.hp2
NA18969.hp1
NA18978.hp2
NA18995.hp2
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-975C>T
c.71-975C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812925
chr8:7812928 C
C
 T
T
 4 a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0085
others(1): Show 
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0085
a0001c0001t0002g0086
 4 HG02683.hp2
NA18747.hp2
NA18978.hp2
others(1): Show 
HG02683.hp2
NA18747.hp2
NA18978.hp2
NA18995.hp2
 intron_variant MODIFIER c.71-978G>A
c.71-978G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812928
chr8:7812930 C
C
 T
T
 13 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(10): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0076
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 25 HG00423.hp2
HG00639.hp2
HG00738.hp2
others(22): Show 
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02258.hp2
HG02273.hp1
HG03209.hp1
HG03579.hp2
HG03654.hp2
NA18969.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-980G>A
c.71-980G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812930
chr8:7812934 T
T
 C
C
 17 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(14): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 29 HG00423.hp2
HG00639.hp2
HG00738.hp2
others(26): Show 
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02258.hp2
HG02273.hp1
HG02683.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
NA18747.hp2
NA18969.hp1
NA18978.hp2
NA18995.hp2
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-984A>G
c.71-984A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812934
chr8:7812934 T
T
 TACAC
TACAC
 8 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(5): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0087
 11 HG00140.hp2
HG00280.hp1
HG01081.hp1
others(8): Show 
HG00140.hp2
HG00280.hp1
HG01081.hp1
HG01167.hp2
HG01934.hp1
HG01981.hp2
HG02155.hp2
HG02273.hp2
HG02622.hp1
HG03942.hp2
NA18943.hp1
 intron_variant MODIFIER c.71-988_71-985dupGT
others(2): Show 
c.71-988_71-985dupGTGT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812934
chr8:7812934 TAC
TAC
 T
T
 15 a0001c0001t0001g0018
a0001c0001t0001g0042
a0001c0001t0001g0043
others(12): Show 
a0001c0001t0001g0018
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0061
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0002c0002t0001g0016
a0002c0002t0001g0037
a0002c0002t0001g0038
 17 HG00544.hp2
HG02145.hp1
HG02145.hp2
others(14): Show 
HG00544.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03209.hp2
HG03579.hp1
HG06807.hp2
NA18522.hp2
NA18953.hp2
NA18956.hp2
NA18981.hp2
 intron_variant MODIFIER c.71-986_71-985delGT
c.71-986_71-985delGT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812934
chr8:7812946 C
C
 G
G
 1 a0002c0002t0001g0031
a0002c0002t0001g0031
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.71-996G>C
c.71-996G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812946
chr8:7812952 C
C
 CACACAT
CACACAT
 2 a0001c0001t0002g0054
a0001c0001t0002g0082
a0001c0001t0002g0054
a0001c0001t0002g0082
 2 NA18946.hp2
NA18984.hp1
NA18946.hp2
NA18984.hp1
 intron_variant MODIFIER c.71-1003_71-1002ins
others(6): Show 
c.71-1003_71-1002insATGTGT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812952
chr8:7812952 C
C
 T
T
 2 a0002c0002t0001g0025
a0002c0002t0001g0030
a0002c0002t0001g0025
a0002c0002t0001g0030
 2 HG02717.hp1
NA18957.hp1
HG02717.hp1
NA18957.hp1
 intron_variant MODIFIER c.71-1002G>A
c.71-1002G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812952
chr8:7812954 T
T
 C
C
 8 a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0064
others(5): Show 
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0073
a0002c0002t0001g0023
a0002c0002t0001g0032
a0002c0002t0001g0035
a0002c0002t0002g0036
 8 HG01071.hp1
HG01081.hp2
HG01255.hp2
others(5): Show 
HG01071.hp1
HG01081.hp2
HG01255.hp2
HG02109.hp1
HG02109.hp2
HG02976.hp1
NA19084.hp1
NA19089.hp2
 intron_variant MODIFIER c.71-1004A>G
c.71-1004A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7812954
chr8:7813128 T
T
 G
G
 67 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(64): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0059
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0003g0045
a0001c0001t0003g0063
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0017
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0027
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0033
a0002c0002t0001g0034
a0002c0002t0001g0035
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 141 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(138): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02615.hp1
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02976.hp1
HG03041.hp2
HG03209.hp1
HG03225.hp1
HG03490.hp1
HG03490.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18984.hp1
NA18987.hp1
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19054.hp1
NA19054.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.71-1178A>C
c.71-1178A>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813128
chr8:7813193 T
T
 A
A
 28 a0001c0001t0001g0058
a0001c0001t0001g0073
a0001c0001t0002g0005
others(25): Show 
a0001c0001t0001g0058
a0001c0001t0001g0073
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0001g0023
a0002c0002t0001g0032
a0002c0002t0001g0035
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
 47 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(44): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp2
NA18969.hp1
NA18978.hp2
NA18984.hp1
NA18995.hp2
NA19084.hp1
NA19088.hp2
NA19089.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-1243A>T
c.71-1243A>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813193
chr8:7813270 T
T
 C
C
 4 a0002c0002t0001g0025
a0002c0002t0002g0004
a0002c0002t0002g0008
others(1): Show 
a0002c0002t0001g0025
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0026
 11 HG00738.hp2
HG01071.hp2
HG01123.hp2
others(8): Show 
HG00738.hp2
HG01071.hp2
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02055.hp2
HG02129.hp1
HG03654.hp2
NA18957.hp1
 intron_variant MODIFIER c.71-1320A>G
c.71-1320A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813270
chr8:7813316 C
C
 A
A
 3 a0001c0001t0001g0018
a0001c0001t0001g0042
a0001c0001t0001g0061
a0001c0001t0001g0018
a0001c0001t0001g0042
a0001c0001t0001g0061
 4 HG00544.hp2
NA18953.hp2
NA18956.hp2
others(1): Show 
HG00544.hp2
NA18953.hp2
NA18956.hp2
NA18981.hp2
 intron_variant MODIFIER c.71-1366G>T
c.71-1366G>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813316
chr8:7813324 G
G
 C
C
 3 a0001c0001t0001g0058
a0001c0001t0001g0073
a0002c0002t0001g0023
a0001c0001t0001g0058
a0001c0001t0001g0073
a0002c0002t0001g0023
 3 HG01081.hp2
HG01255.hp2
NA19084.hp1
HG01081.hp2
HG01255.hp2
NA19084.hp1
 intron_variant MODIFIER c.71-1374C>G
c.71-1374C>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813324
chr8:7813420 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.71-1470G>A
c.71-1470G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813420
chr8:7813429 C
C
 T
T
 2 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0088
a0001c0001t0001g0089
 2 HG02922.hp2
HG06807.hp2
HG02922.hp2
HG06807.hp2
 intron_variant MODIFIER c.71-1479G>A
c.71-1479G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813429
chr8:7813605 A
A
 C
C
 5 a0001c0001t0001g0058
a0001c0001t0001g0073
a0002c0002t0001g0023
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0001g0073
a0002c0002t0001g0023
a0002c0002t0001g0032
a0002c0002t0002g0036
 5 HG01071.hp1
HG01081.hp2
HG01255.hp2
others(2): Show 
HG01071.hp1
HG01081.hp2
HG01255.hp2
HG02109.hp2
NA19084.hp1
 intron_variant MODIFIER c.71-1655T>G
c.71-1655T>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813605
chr8:7813633 A
A
 G
G
 5 a0001c0001t0001g0058
a0001c0001t0001g0073
a0002c0002t0001g0023
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0001g0073
a0002c0002t0001g0023
a0002c0002t0001g0032
a0002c0002t0002g0036
 5 HG01071.hp1
HG01081.hp2
HG01255.hp2
others(2): Show 
HG01071.hp1
HG01081.hp2
HG01255.hp2
HG02109.hp2
NA19084.hp1
 intron_variant MODIFIER c.71-1683T>C
c.71-1683T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813633
chr8:7813648 G
G
 C
C
 6 a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0064
others(3): Show 
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0073
a0002c0002t0001g0032
a0002c0002t0002g0036
 6 HG01071.hp1
HG01255.hp2
HG02109.hp1
others(3): Show 
HG01071.hp1
HG01255.hp2
HG02109.hp1
HG02109.hp2
HG02976.hp1
NA19084.hp1
 intron_variant MODIFIER c.71-1698C>G
c.71-1698C>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813648
chr8:7813664 TA
TA
 T
T
 39 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0047
others(36): Show 
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0058
a0001c0001t0001g0073
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0001g0016
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0030
a0002c0002t0001g0032
a0002c0002t0001g0037
a0002c0002t0001g0038
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
a0002c0002t0004g0029
 59 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(56): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG02970.hp2
HG03209.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp2
NA18957.hp1
NA18969.hp1
NA18978.hp2
NA18984.hp1
NA18995.hp2
NA19084.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.71-1715delT
c.71-1715delT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813664
chr8:7813728 C
C
 G
G
 1 a0001c0001t0002g0071
a0001c0001t0002g0071
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.71-1778G>C
c.71-1778G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813728
chr8:7813882 T
T
 G
G
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.70+1677A>C
c.70+1677A>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813882
chr8:7813895 T
T
 C
C
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 2 NA19003.hp2
NA19081.hp2
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.70+1664A>G
c.70+1664A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813895
chr8:7813997 C
C
 G
G
 91 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(88): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0059
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0003g0045
a0001c0001t0003g0063
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0016
a0002c0002t0001g0017
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0027
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0033
a0002c0002t0001g0034
a0002c0002t0001g0035
a0002c0002t0001g0037
a0002c0002t0001g0038
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
a0002c0002t0004g0029
 169 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18953.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19054.hp1
NA19054.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+1562G>C
c.70+1562G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7813997
chr8:7814048 G
G
 T
T
 2 a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0062
a0001c0001t0001g0066
 2 HG02155.hp1
NA18987.hp2
HG02155.hp1
NA18987.hp2
 intron_variant MODIFIER c.70+1511C>A
c.70+1511C>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814048
chr8:7814067 G
G
 A
A
 1 a0002c0002t0001g0010
a0002c0002t0001g0010
 3 HG02132.hp1
NA18939.hp1
NA18973.hp2
HG02132.hp1
NA18939.hp1
NA18973.hp2
 intron_variant MODIFIER c.70+1492C>T
c.70+1492C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814067
chr8:7814124 C
C
 T
T
 1 a0001c0001t0002g0071
a0001c0001t0002g0071
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.70+1435G>A
c.70+1435G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814124
chr8:7814134 C
C
 G
G
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.70+1425G>C
c.70+1425G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814134
chr8:7814154 C
C
 T
T
 2 a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0071
a0001c0001t0002g0075
 2 NA18978.hp2
NA18995.hp2
NA18978.hp2
NA18995.hp2
 intron_variant MODIFIER c.70+1405G>A
c.70+1405G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814154
chr8:7814237 G
G
 GAT
GAT
 91 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(88): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0059
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0003g0045
a0001c0001t0003g0063
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0016
a0002c0002t0001g0017
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0027
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0033
a0002c0002t0001g0034
a0002c0002t0001g0035
a0002c0002t0001g0037
a0002c0002t0001g0038
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
a0002c0002t0004g0029
 169 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18953.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19054.hp1
NA19054.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+1320_70+1321dup
others(2): Show 
c.70+1320_70+1321dupAT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814237
chr8:7814245 C
C
 G
G
 4 a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
others(1): Show 
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
 4 HG02155.hp1
NA18984.hp2
NA18987.hp2
others(1): Show 
HG02155.hp1
NA18984.hp2
NA18987.hp2
NA19080.hp2
 intron_variant MODIFIER c.70+1314G>C
c.70+1314G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814245
chr8:7814285 C
C
 G
G
 21 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(18): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0001g0025
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
 40 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(37): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp2
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp2
NA18957.hp1
NA18969.hp1
NA18984.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.70+1274G>C
c.70+1274G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814285
chr8:7814309 C
C
 T
T
 26 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(23): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0001g0025
a0002c0002t0001g0032
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
a0002c0002t0004g0029
 45 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG02818.hp2
HG03209.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp2
NA18957.hp1
NA18969.hp1
NA18978.hp2
NA18984.hp1
NA18995.hp2
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.70+1250G>A
c.70+1250G>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814309
chr8:7814315 G
G
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.70+1244C>A
c.70+1244C>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814315
chr8:7814468 G
G
 C
C
 3 a0001c0001t0001g0014
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0014
a0001c0001t0001g0052
a0001c0001t0001g0053
 5 HG02615.hp2
HG02970.hp1
HG03041.hp1
others(2): Show 
HG02615.hp2
HG02970.hp1
HG03041.hp1
HG03225.hp2
NA18522.hp1
 intron_variant MODIFIER c.70+1091C>G
c.70+1091C>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814468
chr8:7814525 G
G
 C
C
 2 a0002c0002t0001g0016
a0002c0002t0001g0037
a0002c0002t0001g0016
a0002c0002t0001g0037
 3 HG02145.hp2
HG02451.hp1
HG02622.hp2
HG02145.hp2
HG02451.hp1
HG02622.hp2
 intron_variant MODIFIER c.70+1034C>G
c.70+1034C>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814525
chr8:7814530 T
T
 A
A
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.70+1029A>T
c.70+1029A>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814530
chr8:7814541 T
T
 C
C
 1 a0002c0002t0004g0029
a0002c0002t0004g0029
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.70+1018A>G
c.70+1018A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814541
chr8:7814664 C
C
 G
G
 15 a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
others(12): Show 
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0054
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
 27 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(24): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00639.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp1
HG01934.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02683.hp2
HG03579.hp2
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp2
NA18969.hp1
NA18984.hp1
NA19088.hp2
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.70+895G>C
c.70+895G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814664
chr8:7814810 G
G
 A
A
 7 a0001c0001t0001g0014
a0001c0001t0001g0052
a0001c0001t0001g0053
others(4): Show 
a0001c0001t0001g0014
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
 9 HG02155.hp1
HG02615.hp2
HG02970.hp1
others(6): Show 
HG02155.hp1
HG02615.hp2
HG02970.hp1
HG03041.hp1
HG03225.hp2
NA18522.hp1
NA18984.hp2
NA18987.hp2
NA19080.hp2
 intron_variant MODIFIER c.70+749C>T
c.70+749C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814810
chr8:7814859 G
G
 A
A
 1 a0001c0001t0002g0075
a0001c0001t0002g0075
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.70+700C>T
c.70+700C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814859
chr8:7814880 C
C
 A
A
 1 a0001c0001t0002g0075
a0001c0001t0002g0075
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.70+679G>T
c.70+679G>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814880
chr8:7814880 C
C
 CAAATATG
others(122): Show 
CAAATATGTTTGTATGGATAAGAGATTTGGACCGACGACTCAGACATGAA
AAAAAATTAGCTGTCTAAGAATCTAGTAACATAACTTTAGTTTAATTTAG
ACTACAAAAGCTGTACTTCCCTAACTTAAA
 1 a0001c0001t0002g0071
a0001c0001t0002g0071
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.70+678_70+679insTT
others(127): Show 
c.70+678_70+679insTTTAAGTTAGGGAAGTACAGCTTTTGTAGTCT
AAATTAAACTAAAGTTATGTTACTAGATTCTTAGACAGCTAATTTTTTTT
CATGTCTGAGTCGTCGGTCCAAATCTCTTATCCATACAAACATATTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814880
chr8:7814918 CT
CT
 C
C
 72 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0071
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0091
a0001c0001t0003g0045
a0001c0001t0003g0063
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0017
a0002c0002t0001g0027
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0033
a0002c0002t0001g0034
a0002c0002t0001g0035
a0002c0002t0001g0038
a0002c0002t0002g0024
 142 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(139): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01358.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03942.hp1
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19054.hp1
NA19054.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+640delA
c.70+640delA
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7814918
chr8:7815000 G
G
 T
T
 5 a0001c0001t0001g0040
a0001c0001t0001g0041
a0002c0002t0001g0009
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0041
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0012
 11 HG02132.hp1
NA18939.hp1
NA18960.hp2
others(8): Show 
HG02132.hp1
NA18939.hp1
NA18960.hp2
NA18968.hp1
NA18973.hp2
NA18987.hp1
NA18995.hp1
NA18999.hp1
NA19078.hp1
NA19081.hp1
NA19089.hp1
 intron_variant MODIFIER c.70+559C>A
c.70+559C>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815000
chr8:7815018 A
A
 C
C
 6 a0001c0001t0001g0019
a0002c0002t0001g0023
a0002c0002t0001g0025
others(3): Show 
a0001c0001t0001g0019
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0026
 14 HG00738.hp2
HG01071.hp2
HG01081.hp2
others(11): Show 
HG00738.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02055.hp2
HG02129.hp1
HG03654.hp2
NA18957.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.70+541T>G
c.70+541T>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815018
chr8:7815023 G
G
 A
A
 4 a0001c0001t0001g0044
a0001c0001t0001g0088
a0001c0001t0001g0089
others(1): Show 
a0001c0001t0001g0044
a0001c0001t0001g0088
a0001c0001t0001g0089
a0002c0002t0001g0038
 4 HG02451.hp2
HG02922.hp2
HG03579.hp1
others(1): Show 
HG02451.hp2
HG02922.hp2
HG03579.hp1
HG06807.hp2
 intron_variant MODIFIER c.70+536C>T
c.70+536C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815023
chr8:7815064 A
A
 G
G
 91 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(88): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0059
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0003g0045
a0001c0001t0003g0063
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0016
a0002c0002t0001g0017
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0027
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0033
a0002c0002t0001g0034
a0002c0002t0001g0035
a0002c0002t0001g0037
a0002c0002t0001g0038
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
a0002c0002t0004g0029
 169 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18953.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19054.hp1
NA19054.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+495T>C
c.70+495T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815064
chr8:7815102 C
C
 G
G
 92 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(89): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0059
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0003g0045
a0001c0001t0003g0063
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0016
a0002c0002t0001g0017
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0027
a0002c0002t0001g0028
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0033
a0002c0002t0001g0034
a0002c0002t0001g0035
a0002c0002t0001g0037
a0002c0002t0001g0038
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
a0002c0002t0004g0029
 170 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18953.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19054.hp1
NA19054.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+457G>C
c.70+457G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815102
chr8:7815104 C
C
 G
G
 10 a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0047
others(7): Show 
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0047
a0001c0001t0001g0051
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0088
a0001c0001t0001g0089
a0002c0002t0001g0016
 11 HG02145.hp1
HG02145.hp2
HG02451.hp1
others(8): Show 
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02451.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03209.hp2
HG06807.hp2
NA18522.hp2
 intron_variant MODIFIER c.70+455G>C
c.70+455G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815104
chr8:7815106 G
G
 C
C
 6 a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0074
others(3): Show 
a0001c0001t0001g0007
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0002g0081
a0002c0002t0001g0032
a0002c0002t0002g0036
 9 HG00323.hp1
HG00738.hp1
HG01071.hp1
others(6): Show 
HG00323.hp1
HG00738.hp1
HG01071.hp1
HG01981.hp2
HG02109.hp2
HG02129.hp2
NA18980.hp2
NA18984.hp2
NA19054.hp1
 intron_variant MODIFIER c.70+453C>G
c.70+453C>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815106
chr8:7815108 C
C
 A
A
 43 a0001c0001t0001g0002
a0001c0001t0001g0015
a0001c0001t0001g0040
others(40): Show 
a0001c0001t0001g0002
a0001c0001t0001g0015
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0055
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0054
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0082
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0017
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0027
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0033
a0002c0002t0001g0035
a0002c0002t0001g0037
a0002c0002t0001g0038
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
 84 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(81): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00738.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG03041.hp2
HG03225.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
NA18747.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18946.hp2
NA18953.hp1
NA18957.hp1
NA18960.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18972.hp1
NA18973.hp1
NA18973.hp2
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18984.hp1
NA18987.hp1
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA19054.hp2
NA19078.hp1
NA19081.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
 intron_variant MODIFIER c.70+451G>T
c.70+451G>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815108
chr8:7815120 T
T
 C
C
 2 a0001c0001t0001g0050
a0002c0002t0001g0013
a0001c0001t0001g0050
a0002c0002t0001g0013
 4 HG01123.hp1
NA18939.hp2
NA18963.hp1
others(1): Show 
HG01123.hp1
NA18939.hp2
NA18963.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+439A>G
c.70+439A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815120
chr8:7815123 G
G
 C
C
 2 a0001c0001t0001g0050
a0002c0002t0001g0013
a0001c0001t0001g0050
a0002c0002t0001g0013
 4 HG01123.hp1
NA18939.hp2
NA18963.hp1
others(1): Show 
HG01123.hp1
NA18939.hp2
NA18963.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+436C>G
c.70+436C>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815123
chr8:7815165 A
A
 G
G
 1 a0002c0002t0001g0031
a0002c0002t0001g0031
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.70+394T>C
c.70+394T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815165
chr8:7815172 T
T
 C
C
 8 a0001c0001t0001g0048
a0001c0001t0001g0056
a0001c0001t0001g0057
others(5): Show 
a0001c0001t0001g0048
a0001c0001t0001g0056
a0001c0001t0001g0057
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0004g0029
 15 HG00280.hp2
HG00738.hp2
HG01071.hp2
others(12): Show 
HG00280.hp2
HG00738.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02129.hp1
HG02683.hp1
HG02735.hp1
HG02818.hp2
HG03654.hp2
NA18957.hp1
 intron_variant MODIFIER c.70+387A>G
c.70+387A>G
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815172
chr8:7815180 A
A
 G
G
 9 a0001c0001t0001g0048
a0001c0001t0001g0056
a0001c0001t0001g0057
others(6): Show 
a0001c0001t0001g0048
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0072
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0004g0029
 16 HG00280.hp2
HG00738.hp2
HG01071.hp2
others(13): Show 
HG00280.hp2
HG00738.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02129.hp1
HG02683.hp1
HG02735.hp1
HG02818.hp2
HG03654.hp2
HG06807.hp1
NA18957.hp1
 intron_variant MODIFIER c.70+379T>C
c.70+379T>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815180
chr8:7815187 G
G
 T
T
 1 a0002c0002t0001g0037
a0002c0002t0001g0037
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.70+372C>A
c.70+372C>A
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815187
chr8:7815247 C
C
 CAA
CAA
 4 a0001c0001t0001g0047
a0002c0002t0001g0023
a0002c0002t0002g0004
others(1): Show 
a0001c0001t0001g0047
a0002c0002t0001g0023
a0002c0002t0002g0004
a0002c0002t0002g0024
 9 HG00738.hp2
HG01071.hp2
HG01081.hp2
others(6): Show 
HG00738.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01169.hp2
HG01261.hp1
HG02129.hp1
HG02145.hp1
HG02258.hp2
 intron_variant MODIFIER c.70+310_70+311dupTT
c.70+310_70+311dupTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAA
CAAA
 11 a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
others(8): Show 
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0013
a0002c0002t0001g0025
a0002c0002t0001g0030
a0002c0002t0002g0008
a0002c0002t0002g0026
 21 HG01123.hp1
HG01175.hp1
HG01358.hp1
others(18): Show 
HG01123.hp1
HG01175.hp1
HG01358.hp1
HG02055.hp2
HG02109.hp1
HG02132.hp1
HG02683.hp1
HG02717.hp1
HG02735.hp2
HG03654.hp1
HG03654.hp2
NA18939.hp1
NA18939.hp2
NA18957.hp1
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA19081.hp1
NA19089.hp1
NA19090.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+309_70+311dupTT
others(1): Show 
c.70+309_70+311dupTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAA
CAAAA
 9 a0001c0001t0001g0014
a0001c0001t0001g0040
a0001c0001t0001g0051
others(6): Show 
a0001c0001t0001g0014
a0001c0001t0001g0040
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0055
a0001c0001t0002g0054
a0002c0002t0001g0012
a0002c0002t0001g0027
 13 HG02615.hp2
HG02970.hp1
HG02976.hp2
others(10): Show 
HG02615.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp2
HG03490.hp2
NA18522.hp1
NA18960.hp2
NA18984.hp1
NA18987.hp1
NA18995.hp1
NA19078.hp1
 intron_variant MODIFIER c.70+308_70+311dupTT
others(2): Show 
c.70+308_70+311dupTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAA
CAAAAA
 24 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0019
a0001c0001t0001g0041
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0002g0059
a0001c0001t0002g0071
a0001c0001t0003g0063
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0033
 58 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(55): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00738.hp1
HG01167.hp1
HG01255.hp1
HG01255.hp2
HG01358.hp2
HG01981.hp1
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02155.hp1
HG02735.hp1
HG02818.hp1
HG02976.hp1
HG03225.hp1
HG03490.hp1
HG03942.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18947.hp1
NA18953.hp1
NA18953.hp2
NA18956.hp1
NA18960.hp1
NA18963.hp2
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18984.hp2
NA18987.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.70+307_70+311dupTT
others(3): Show 
c.70+307_70+311dupTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAA
CAAAAAA
 13 a0001c0001t0001g0003
a0001c0001t0001g0015
a0001c0001t0001g0018
others(10): Show 
a0001c0001t0001g0003
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0002g0075
a0001c0001t0002g0076
a0002c0002t0001g0017
a0002c0002t0001g0034
a0002c0002t0001g0035
 25 HG00544.hp1
HG00609.hp1
HG00621.hp2
others(22): Show 
HG00544.hp1
HG00609.hp1
HG00621.hp2
HG01175.hp2
HG01934.hp2
HG02080.hp2
HG02258.hp1
HG02615.hp1
HG02717.hp2
HG06807.hp1
NA18747.hp1
NA18956.hp2
NA18957.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18981.hp2
NA18995.hp2
NA19054.hp1
NA19054.hp2
NA19078.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp2
NA20805.hp1
 intron_variant MODIFIER c.70+306_70+311dupTT
others(4): Show 
c.70+306_70+311dupTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 1 a0002c0002t0002g0036
a0002c0002t0002g0036
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.70+299_70+311dupTT
others(11): Show 
c.70+299_70+311dupTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 1 a0001c0001t0002g0078
a0001c0001t0002g0078
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.70+297_70+311dupTT
others(13): Show 
c.70+297_70+311dupTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(10): Show 
CAAAAAAAAAAAAAAAAA
 1 a0002c0002t0001g0037
a0002c0002t0001g0037
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.70+295_70+311dupTT
others(15): Show 
c.70+295_70+311dupTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.70+294_70+311dupTT
others(16): Show 
c.70+294_70+311dupTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0001g0080
a0001c0001t0002g0005
a0001c0001t0002g0081
others(1): Show 
a0001c0001t0001g0080
a0001c0001t0002g0005
a0001c0001t0002g0081
a0001c0001t0002g0082
 9 HG00140.hp2
HG00639.hp2
HG01167.hp2
others(6): Show 
HG00140.hp2
HG00639.hp2
HG01167.hp2
HG01169.hp1
HG01981.hp2
HG02273.hp1
HG02922.hp1
NA18946.hp2
NA18969.hp1
 intron_variant MODIFIER c.70+293_70+311dupTT
others(17): Show 
c.70+293_70+311dupTTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0084
others(1): Show 
a0001c0001t0001g0083
a0001c0001t0002g0006
a0001c0001t0002g0084
a0001c0001t0002g0085
 9 HG00423.hp2
HG01081.hp1
HG01934.hp1
others(6): Show 
HG00423.hp2
HG01081.hp1
HG01934.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp2
HG03209.hp2
NA18943.hp1
NA19088.hp2
 intron_variant MODIFIER c.70+292_70+311dupTT
others(18): Show 
c.70+292_70+311dupTTTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(14): Show 
CAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0002g0021
a0001c0001t0002g0086
a0001c0001t0002g0021
a0001c0001t0002g0086
 3 HG02080.hp1
HG02273.hp2
NA18747.hp2
HG02080.hp1
HG02273.hp2
NA18747.hp2
 intron_variant MODIFIER c.70+291_70+311dupTT
others(19): Show 
c.70+291_70+311dupTTTTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(15): Show 
CAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 2 HG03942.hp2
NA19090.hp2
HG03942.hp2
NA19090.hp2
 intron_variant MODIFIER c.70+290_70+311dupTT
others(20): Show 
c.70+290_70+311dupTTTTTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(16): Show 
CAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0002g0087
a0001c0001t0002g0087
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.70+289_70+311dupTT
others(21): Show 
c.70+289_70+311dupTTTTTTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(17): Show 
CAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0001g0088
a0002c0002t0001g0038
a0001c0001t0001g0088
a0002c0002t0001g0038
 2 HG03579.hp1
HG06807.hp2
HG03579.hp1
HG06807.hp2
 intron_variant MODIFIER c.70+288_70+311dupTT
others(22): Show 
c.70+288_70+311dupTTTTTTTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(20): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.70+311_70+312insTT
others(25): Show 
c.70+311_70+312insTTTTTTTTTTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815247 C
C
 CAAAAAAA
others(21): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0090
a0001c0001t0002g0091
 2 HG02055.hp1
HG03579.hp2
HG02055.hp1
HG03579.hp2
 intron_variant MODIFIER c.70+311_70+312insTT
others(26): Show 
c.70+311_70+312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815247
chr8:7815287 G
G
 A
A
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.70+272C>T
c.70+272C>T
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815287
chr8:7815300 C
C
 CA
CA
 91 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
others(88): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0044
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0021
a0001c0001t0002g0022
a0001c0001t0002g0039
a0001c0001t0002g0054
a0001c0001t0002g0059
a0001c0001t0002g0071
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0003g0045
a0001c0001t0003g0063
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0013
a0002c0002t0001g0016
a0002c0002t0001g0017
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0027
a0002c0002t0001g0030
a0002c0002t0001g0031
a0002c0002t0001g0032
a0002c0002t0001g0033
a0002c0002t0001g0034
a0002c0002t0001g0035
a0002c0002t0001g0037
a0002c0002t0001g0038
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
a0002c0002t0002g0036
a0002c0002t0004g0029
 169 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18953.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19054.hp1
NA19054.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.70+258dupT
c.70+258dupT
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815300
chr8:7815369 C
C
 G
G
 2 a0001c0001t0001g0018
a0001c0001t0001g0042
a0001c0001t0001g0018
a0001c0001t0001g0042
 3 HG00544.hp2
NA18956.hp2
NA18981.hp2
HG00544.hp2
NA18956.hp2
NA18981.hp2
 intron_variant MODIFIER c.70+190G>C
c.70+190G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815369
chr8:7815398 C
C
 G
G
 14 a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0002g0039
others(11): Show 
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0002g0039
a0002c0002t0001g0009
a0002c0002t0001g0010
a0002c0002t0001g0011
a0002c0002t0001g0012
a0002c0002t0001g0023
a0002c0002t0001g0025
a0002c0002t0001g0027
a0002c0002t0002g0004
a0002c0002t0002g0008
a0002c0002t0002g0024
a0002c0002t0002g0026
 29 HG00738.hp2
HG01071.hp2
HG01081.hp2
others(26): Show 
HG00738.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01261.hp1
HG01358.hp1
HG02055.hp2
HG02129.hp1
HG02132.hp1
HG02258.hp2
HG02735.hp2
HG03209.hp1
HG03490.hp2
HG03654.hp1
HG03654.hp2
NA18939.hp1
NA18957.hp1
NA18960.hp2
NA18968.hp1
NA18973.hp2
NA18987.hp1
NA18995.hp1
NA18999.hp1
NA19078.hp1
NA19081.hp1
NA19089.hp1
NA19090.hp1
 intron_variant MODIFIER c.70+161G>C
c.70+161G>C
DEFB107A ENSG00000186572.2 transcript ENST00000335021.2 protein_coding 1/1 chr8 7815398

  • 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)
​

IGV Connection Help

IGV must be running on your computer before clicking the button.

If your browser shows the "cannot open the page" error, launch IGV and allow access via port 60151:

  1. Open IGV on your computer
  2. In IGV's menu bar: View → Preferences…
  3. Click on the "Advanced" tab
  4. Check "Enable port"
  5. Set the port number to 60151
  6. Click OK to save

For more details, please refer to Information → FAQ.