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?   ATP6V1E2_chr2_46506847_46547577  ATP6V1E2_chr2_46506847_46547577 (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 90423
ensemblid ENSG00000250565.7
hgncid 18125
symbol ATP6V1E2
name ATPase H+ transporting V1 subunit E2
refseq_nuc NM_001318063.2
refseq_prot NP_001304992.1
ensembl_nuc ENST00000522587.6
ensembl_prot ENSP00000428141.1
mane_status MANE Select
chr chr2
start 46511847
end 46542577
strand -
ver v1.2
region chr2:46511847-46542577
region5000 chr2:46506847-46547577
regionname0 ATP6V1E2_chr2_46511847_46542577
regionname5000 ATP6V1E2_chr2_46506847_46547577

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 226 403 87 78 176 16 44 142 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0002 0/0 226 2 0 0 2 0 0 2 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0003 0/0 226 2 2 0 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0004 0/0 226 1 0 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0005 0/0 226 1 0 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0006 0/0 226 1 1 0 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 681 391 78 76 175 16 44 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
c0002 0/0 681 10 8 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
c0003 0/0 681 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
c0004 0/0 681 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
c0005 0/0 681 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
c0006 0/0 681 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
c0007 0/0 681 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
c0008 0/0 681 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
c0009 0/0 681 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 919 145 11 40 78 2 14 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0002 0/1 919 104 31 17 43 4 8 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0003 0/0 919 85 28 12 24 6 15 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0004 1/0 919 29 2 4 17 2 3 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0005 0/0 919 21 14 1 2 2 2 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0006 0/0 919 13 0 0 13 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0007 0/0 919 9 4 3 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0008 0/0 919 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0009 0/0 919 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0010 0/0 919 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
t0011 0/0 919 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 19 1 1 16 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0002 0/0 9 3 2 2 2 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0003 0/0 8 1 0 7 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0004 0/0 6 0 6 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0005 0/0 6 0 0 6 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0006 0/0 6 0 0 6 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0007 0/0 5 0 2 3 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0008 0/0 5 0 0 5 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0009 0/0 4 0 0 3 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0010 0/0 4 0 0 4 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0011 0/0 4 4 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0012 0/0 4 0 1 3 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0013 0/0 3 2 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0014 0/0 3 2 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0015 0/0 3 0 1 0 2 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0016 0/0 3 3 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0017 0/0 3 1 1 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0018 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0019 0/0 2 0 0 1 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0020 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0021 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0022 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0023 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0024 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0025 0/0 2 0 1 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0026 0/0 2 0 0 0 0 2 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0027 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0028 0/0 2 1 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0029 0/0 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0030 0/0 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0031 0/0 2 0 1 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0032 0/0 2 0 0 1 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0033 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0034 0/0 2 0 1 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0035 0/0 2 0 0 1 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0036 0/0 2 1 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0037 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0038 0/0 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0039 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0040 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0041 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0042 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0043 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0044 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0045 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0046 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0047 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0048 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0049 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0050 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0051 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0052 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0053 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0054 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0055 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0056 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0057 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0058 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0059 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0060 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0061 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0062 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0063 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0064 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0065 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0066 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0067 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0068 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0069 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0070 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0071 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0072 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0073 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0074 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0075 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0076 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0077 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0078 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0079 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0080 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0081 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0082 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0083 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0084 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0085 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0086 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0087 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0088 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0089 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0090 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0091 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0092 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0093 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0094 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0095 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0096 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0097 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0098 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0099 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0100 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0101 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0102 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0103 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0104 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0105 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0106 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0107 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0108 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0109 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0110 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0111 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0112 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0113 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0114 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0115 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0116 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0117 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0118 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0119 1/0 1 0 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0120 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0121 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0122 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0123 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0124 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0125 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0126 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0127 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0128 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0129 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0130 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0131 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0132 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0133 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0134 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0135 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0136 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0137 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0138 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0139 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0140 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0141 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0142 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0143 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0144 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0145 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0146 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0147 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0148 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0149 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0150 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0151 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0152 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0153 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0154 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0155 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0156 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0157 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0158 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0159 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0160 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0161 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0162 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0163 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0164 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0165 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0166 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0167 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0168 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0169 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0170 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0171 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0172 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0173 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0174 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0175 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0176 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0177 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0178 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0179 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0180 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0181 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0182 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0183 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0184 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0185 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0186 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0187 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0188 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0189 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0190 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0191 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0192 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0193 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0194 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0195 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0196 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0197 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0198 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0199 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0200 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0201 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0202 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0203 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0204 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0205 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0206 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0207 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0208 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0209 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0210 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0211 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0212 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0213 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0214 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0215 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0216 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0217 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0218 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0219 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0220 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0221 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0222 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0223 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0224 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0225 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0226 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0227 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0228 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0229 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0230 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0231 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0232 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0233 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0234 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0235 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0236 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0237 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0238 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0239 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0240 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0241 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0242 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0243 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0244 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0245 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0246 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0247 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0248 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0249 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0250 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0251 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0252 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0253 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0254 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0255 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0256 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0257 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0258 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0259 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0260 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0261 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0262 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0263 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0264 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0265 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0266 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0267 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0268 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0269 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0270 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0271 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0272 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0273 0/1 1 0 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0274 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0275 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0276 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0277 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0278 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0279 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0280 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0281 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0282 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0283 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0284 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0285 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0286 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0287 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0288 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0289 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0290 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0291 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0292 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0293 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0294 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0295 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0296 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0297 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0298 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0299 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0300 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0301 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0302 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0303 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0304 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0305 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0306 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
g0307 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 681 391 78 76 175 16 44 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0002 0/0 681 10 8 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0005 0/0 681 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0008 0/0 681 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0002c0003 0/0 681 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0003c0004 0/0 681 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0004c0007 0/0 681 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0005c0009 0/0 681 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0006c0006 0/0 681 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 1599 143 11 40 76 2 14 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0002 0/1 1599 98 27 16 42 4 8 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0003 0/0 1599 79 23 11 24 6 15 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0004 1/0 1599 27 2 4 15 2 3 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0005 0/0 1599 19 12 1 2 2 2 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0006 0/0 1599 13 0 0 13 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0007 0/0 1599 8 3 3 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0008 0/0 1599 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0009 0/0 1599 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0010 0/0 1599 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0001t0011 0/0 1599 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0002t0002 0/0 1599 4 3 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0002t0003 0/0 1599 6 5 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0005t0001 0/0 1599 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0001c0008t0002 0/0 1599 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0002c0003t0004 0/0 1599 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0003c0004t0005 0/0 1599 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0004c0007t0002 0/0 1599 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0005c0009t0001 0/0 1599 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577
a0006c0006t0007 0/0 1599 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 copy fasta chr2 46506847 46547577

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 19 1 1 16 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0004 0/0 6 0 6 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0005 0/0 6 0 0 6 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0006 0/0 6 0 0 6 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0012 0/0 4 0 1 3 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0020 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0021 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0022 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0023 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0031 0/0 2 0 1 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0032 0/0 2 0 0 1 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0042 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0046 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0047 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0048 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0049 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0050 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0051 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0062 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0064 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0065 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0067 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0068 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0069 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0070 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0071 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0072 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0073 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0074 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0075 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0076 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0077 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0078 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0079 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0080 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0082 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0083 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0084 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0085 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0087 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0088 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0089 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0090 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0091 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0092 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0099 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0192 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0194 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0197 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0198 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0204 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0210 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0211 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0215 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0216 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0217 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0219 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0220 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0222 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0224 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0225 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0226 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0227 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0229 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0230 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0231 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0232 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0235 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0236 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0237 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0238 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0239 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0240 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0241 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0242 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0250 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0252 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0253 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0265 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0267 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0268 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0275 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0276 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0277 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0280 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0281 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0283 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0286 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0287 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0290 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0291 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0293 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0294 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0298 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0299 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0001g0300 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0003 0/0 8 1 0 7 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0007 0/0 5 0 2 3 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0008 0/0 5 0 0 5 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0011 0/0 4 4 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0015 0/0 3 0 1 0 2 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0016 0/0 3 3 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0017 0/0 3 1 1 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0019 0/0 2 0 0 1 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0033 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0034 0/0 2 0 1 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0035 0/0 2 0 0 1 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0036 0/0 2 1 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0037 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0038 0/0 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0039 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0040 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0063 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0093 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0102 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0190 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0191 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0193 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0203 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0205 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0206 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0207 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0208 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0209 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0214 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0221 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0223 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0228 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0233 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0234 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0243 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0244 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0245 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0247 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0248 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0249 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0251 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0254 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0255 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0256 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0257 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0258 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0259 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0260 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0261 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0262 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0263 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0264 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0266 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0269 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0271 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0272 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0273 0/1 1 0 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0274 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0278 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0282 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0284 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0285 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0288 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0289 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0002g0295 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0002 0/0 9 3 2 2 2 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0010 0/0 4 0 0 4 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0013 0/0 3 2 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0025 0/0 2 0 1 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0026 0/0 2 0 0 0 0 2 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0027 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0028 0/0 2 1 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0041 0/0 2 0 2 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0096 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0097 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0098 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0127 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0130 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0131 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0134 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0135 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0138 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0139 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0141 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0142 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0144 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0145 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0146 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0148 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0150 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0151 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0152 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0153 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0154 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0155 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0156 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0157 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0158 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0159 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0161 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0162 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0164 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0165 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0166 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0167 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0168 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0169 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0173 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0174 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0175 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0176 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0177 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0178 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0179 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0182 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0183 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0184 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0185 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0186 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0187 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0188 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0189 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0201 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0202 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0297 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0003g0303 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0009 0/0 4 0 0 3 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0024 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0094 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0100 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0101 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0103 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0104 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0105 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0106 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0107 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0109 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0112 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0113 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0114 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0117 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0118 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0119 1/0 1 0 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0121 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0122 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0123 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0124 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0199 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0004g0200 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0029 0/0 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0095 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0125 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0126 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0128 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0129 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0132 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0136 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0137 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0140 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0147 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0149 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0160 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0163 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0171 0/0 1 0 0 0 1 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0172 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0180 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0005g0181 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0018 0/0 2 0 0 2 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0052 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0053 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0054 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0055 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0056 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0057 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0058 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0059 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0060 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0086 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0006g0195 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0007g0014 0/0 3 2 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0007g0108 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0007g0110 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0007g0111 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0007g0120 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0007g0196 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0008g0043 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0009g0044 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0010g0170 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0001t0011g0279 0/0 1 0 0 0 0 1 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0002g0030 0/0 2 2 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0002g0212 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0002g0213 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0003g0301 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0003g0302 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0003g0304 0/0 1 0 1 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0003g0305 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0003g0306 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0002t0003g0307 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0005t0001g0270 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0001c0008t0002g0292 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0002c0003t0004g0115 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0002c0003t0004g0116 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0003c0004t0005g0133 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0003c0004t0005g0143 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0004c0007t0002g0246 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0005c0009t0001g0218 0/0 1 0 0 1 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
a0006c0006t0007g0296 0/0 1 1 0 0 0 0 ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0004 g0009 EUR GBR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00099 hp2 a0001 c0001 t0004 g0100 EUR GBR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00140 hp1 a0001 c0001 t0003 g0188 EUR GBR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00140 hp2 a0001 c0001 t0003 g0097 EUR GBR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00280 hp1 a0001 c0001 t0001 g0087 EUR FIN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00280 hp2 a0001 c0001 t0002 g0247 EUR FIN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00323 hp1 a0001 c0001 t0005 g0125 EUR FIN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00323 hp2 a0001 c0001 t0002 g0271 EUR FIN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00408 hp1 a0001 c0001 t0002 g0008 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00408 hp2 a0001 c0001 t0001 g0006 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00544 hp1 a0001 c0001 t0001 g0032 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00544 hp2 a0005 c0009 t0001 g0218 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00597 hp1 a0001 c0001 t0002 g0035 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00597 hp2 a0001 c0001 t0001 g0081 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00609 hp1 a0001 c0001 t0001 g0197 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00609 hp2 a0001 c0001 t0001 g0239 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00621 hp1 a0001 c0001 t0007 g0111 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00621 hp2 a0001 c0001 t0001 g0235 EAS CHS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00639 hp1 a0001 c0001 t0001 g0076 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00639 hp2 a0001 c0001 t0001 g0077 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00642 hp1 a0001 c0001 t0001 g0090 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00642 hp2 a0001 c0001 t0003 g0202 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00735 hp1 a0001 c0001 t0007 g0108 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00735 hp2 a0001 c0001 t0003 g0041 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00738 hp1 a0001 c0001 t0001 g0067 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00738 hp2 a0001 c0001 t0002 g0266 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00741 hp1 a0001 c0001 t0002 g0036 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG00741 hp2 a0001 c0001 t0003 g0025 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01070 hp1 a0001 c0001 t0001 g0023 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01070 hp2 a0001 c0001 t0004 g0101 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01071 hp1 a0001 c0001 t0004 g0107 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01071 hp2 a0001 c0001 t0001 g0023 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01074 hp1 a0001 c0001 t0002 g0190 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01074 hp2 a0001 c0001 t0001 g0091 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01081 hp1 a0001 c0001 t0007 g0014 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01081 hp2 a0001 c0001 t0002 g0040 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01099 hp1 a0001 c0001 t0003 g0189 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01099 hp2 a0001 c0001 t0001 g0092 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01106 hp1 a0001 c0001 t0001 g0078 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01106 hp2 a0001 c0001 t0002 g0040 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01109 hp1 a0001 c0001 t0005 g0181 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01109 hp2 a0001 c0002 t0002 g0212 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01167 hp1 a0001 c0001 t0002 g0017 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01167 hp2 a0001 c0001 t0001 g0022 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01168 hp1 a0001 c0001 t0003 g0002 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01168 hp2 a0001 c0001 t0001 g0047 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01169 hp1 a0001 c0001 t0003 g0002 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01169 hp2 a0001 c0001 t0001 g0080 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01175 hp1 a0001 c0001 t0002 g0251 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01175 hp2 a0001 c0002 t0003 g0304 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01192 hp1 a0001 c0001 t0007 g0110 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01192 hp2 a0001 c0001 t0003 g0187 AMR PUR ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01255 hp1 a0001 c0001 t0004 g0200 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01255 hp2 a0001 c0001 t0003 g0028 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01256 hp1 a0001 c0001 t0002 g0039 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01256 hp2 a0001 c0001 t0001 g0088 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01257 hp1 a0001 c0001 t0002 g0007 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01257 hp2 a0001 c0001 t0003 g0297 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01258 hp1 a0001 c0001 t0002 g0007 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01258 hp2 a0001 c0001 t0002 g0039 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01261 hp1 a0001 c0001 t0002 g0272 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01261 hp2 a0001 c0001 t0001 g0064 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01346 hp1 a0001 c0001 t0001 g0277 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01346 hp2 a0001 c0001 t0002 g0015 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01361 hp1 a0001 c0001 t0003 g0159 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01361 hp2 a0001 c0001 t0003 g0041 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01433 hp1 a0001 c0001 t0010 g0170 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01433 hp2 a0001 c0001 t0002 g0102 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01496 hp1 a0001 c0001 t0001 g0062 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01496 hp2 a0001 c0001 t0001 g0031 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01515 hp1 a0001 c0001 t0003 g0168 EUR IBS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01515 hp2 a0001 c0001 t0002 g0015 EUR IBS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01516 hp1 a0001 c0001 t0005 g0171 EUR IBS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01516 hp2 a0001 c0001 t0003 g0002 EUR IBS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01517 hp1 a0001 c0001 t0002 g0015 EUR IBS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01517 hp2 a0001 c0001 t0003 g0002 EUR IBS ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01884 hp1 a0001 c0001 t0003 g0183 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01884 hp2 a0001 c0001 t0001 g0210 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01891 hp1 a0001 c0001 t0002 g0016 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01891 hp2 a0001 c0001 t0005 g0029 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01928 hp1 a0001 c0001 t0001 g0004 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01928 hp2 a0001 c0001 t0001 g0022 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01934 hp1 a0001 c0001 t0001 g0012 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01934 hp2 a0001 c0001 t0001 g0082 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01952 hp1 a0001 c0001 t0001 g0276 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01952 hp2 a0001 c0001 t0001 g0001 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01975 hp1 a0001 c0001 t0001 g0065 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01975 hp2 a0001 c0001 t0001 g0004 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01978 hp1 a0001 c0001 t0001 g0084 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01978 hp2 a0001 c0001 t0001 g0049 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01981 hp1 a0001 c0001 t0001 g0075 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01981 hp2 a0001 c0001 t0002 g0034 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01993 hp1 a0001 c0001 t0001 g0004 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01993 hp2 a0001 c0001 t0001 g0074 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02004 hp1 a0001 c0001 t0001 g0004 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02004 hp2 a0001 c0001 t0001 g0073 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02027 hp1 a0001 c0001 t0001 g0012 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02027 hp2 a0001 c0001 t0003 g0135 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02040 hp1 a0001 c0001 t0006 g0059 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02040 hp2 a0001 c0001 t0001 g0252 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02055 hp1 a0001 c0001 t0002 g0011 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02055 hp2 a0001 c0001 t0002 g0288 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02056 hp1 a0001 c0001 t0002 g0244 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02056 hp2 a0001 c0001 t0003 g0002 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02071 hp1 a0001 c0001 t0001 g0001 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02071 hp2 a0001 c0001 t0002 g0008 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02074 hp1 a0001 c0001 t0002 g0037 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02074 hp2 a0001 c0001 t0002 g0254 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02080 hp1 a0001 c0001 t0001 g0001 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02080 hp2 a0001 c0001 t0002 g0003 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02083 hp1 a0001 c0001 t0001 g0006 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02083 hp2 a0001 c0001 t0001 g0001 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02129 hp1 a0001 c0001 t0007 g0120 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02129 hp2 a0004 c0007 t0002 g0246 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02132 hp1 a0001 c0001 t0004 g0122 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02132 hp2 a0001 c0001 t0001 g0001 EAS KHV ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02145 hp1 a0001 c0002 t0003 g0301 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02145 hp2 a0001 c0001 t0001 g0293 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02148 hp1 a0001 c0001 t0001 g0267 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02148 hp2 a0001 c0001 t0001 g0083 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02155 hp1 a0001 c0001 t0001 g0012 EAS CDX ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02155 hp2 a0001 c0001 t0006 g0056 EAS CDX ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02165 hp1 a0001 c0001 t0001 g0001 EAS CDX ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02165 hp2 a0001 c0001 t0002 g0008 EAS CDX ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02257 hp1 a0001 c0001 t0005 g0095 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02257 hp2 a0001 c0001 t0002 g0016 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02258 hp1 a0001 c0001 t0004 g0118 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02258 hp2 a0001 c0001 t0002 g0036 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02273 hp1 a0001 c0001 t0001 g0069 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02273 hp2 a0001 c0001 t0001 g0004 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02280 hp1 a0001 c0001 t0003 g0184 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02280 hp2 a0001 c0001 t0002 g0017 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02293 hp1 a0001 c0001 t0001 g0004 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02293 hp2 a0001 c0001 t0001 g0071 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02300 hp1 a0001 c0001 t0002 g0274 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02300 hp2 a0001 c0001 t0001 g0068 AMR PEL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02572 hp1 a0001 c0001 t0003 g0158 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02572 hp2 a0001 c0001 t0005 g0147 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02602 hp1 a0001 c0001 t0001 g0224 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02602 hp2 a0001 c0001 t0002 g0258 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02615 hp1 a0001 c0001 t0002 g0011 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02615 hp2 a0001 c0002 t0003 g0307 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02622 hp1 a0001 c0001 t0002 g0011 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02622 hp2 a0001 c0001 t0003 g0013 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02630 hp1 a0006 c0006 t0007 g0296 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02630 hp2 a0001 c0001 t0003 g0179 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02647 hp1 a0001 c0001 t0001 g0211 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02647 hp2 a0001 c0001 t0002 g0261 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02683 hp1 a0001 c0001 t0002 g0019 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02683 hp2 a0001 c0001 t0001 g0048 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02698 hp1 a0001 c0001 t0001 g0051 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02698 hp2 a0001 c0001 t0003 g0166 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02717 hp1 a0001 c0001 t0001 g0286 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02717 hp2 a0001 c0001 t0002 g0038 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02723 hp1 a0001 c0001 t0003 g0176 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02723 hp2 a0001 c0001 t0007 g0196 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02738 hp1 a0001 c0001 t0003 g0164 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02738 hp2 a0001 c0001 t0001 g0046 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02809 hp1 a0001 c0001 t0004 g0123 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02809 hp2 a0001 c0001 t0003 g0131 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02818 hp1 a0001 c0001 t0002 g0295 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02818 hp2 a0001 c0008 t0002 g0292 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02886 hp1 a0001 c0001 t0001 g0290 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02886 hp2 a0001 c0001 t0003 g0028 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02896 hp1 a0001 c0001 t0005 g0126 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02896 hp2 a0001 c0002 t0002 g0213 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02897 hp1 a0001 c0001 t0003 g0185 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02897 hp2 a0001 c0002 t0002 g0030 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02922 hp1 a0001 c0001 t0003 g0002 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02922 hp2 a0001 c0001 t0001 g0265 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02965 hp1 a0001 c0001 t0001 g0294 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02965 hp2 a0001 c0001 t0005 g0128 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02970 hp1 a0003 c0004 t0005 g0143 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02970 hp2 a0001 c0001 t0003 g0201 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02976 hp1 a0001 c0001 t0002 g0259 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02976 hp2 a0001 c0001 t0001 g0291 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03017 hp1 a0001 c0001 t0003 g0169 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03017 hp2 a0001 c0001 t0002 g0093 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03130 hp1 a0001 c0001 t0005 g0137 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03130 hp2 a0001 c0002 t0002 g0030 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03139 hp1 a0001 c0001 t0005 g0160 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03139 hp2 a0001 c0001 t0002 g0260 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03195 hp1 a0001 c0001 t0003 g0127 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03195 hp2 a0001 c0001 t0007 g0014 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03209 hp1 a0001 c0001 t0003 g0156 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03209 hp2 a0001 c0001 t0002 g0289 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03239 hp1 a0001 c0001 t0002 g0278 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03239 hp2 a0001 c0001 t0001 g0089 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03453 hp1 a0001 c0001 t0002 g0248 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03453 hp2 a0001 c0001 t0002 g0284 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03486 hp1 a0001 c0001 t0005 g0140 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03486 hp2 a0001 c0001 t0005 g0129 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03490 hp1 a0001 c0001 t0001 g0194 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03490 hp2 a0001 c0001 t0005 g0172 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03491 hp1 a0001 c0001 t0003 g0026 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03491 hp2 a0001 c0001 t0008 g0043 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03492 hp1 a0001 c0001 t0005 g0149 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03492 hp2 a0001 c0001 t0003 g0026 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03516 hp1 a0001 c0001 t0003 g0002 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03516 hp2 a0001 c0001 t0003 g0303 AFR ESN ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03540 hp1 a0001 c0001 t0002 g0003 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03540 hp2 a0001 c0001 t0003 g0165 AFR GWD ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03579 hp1 a0001 c0001 t0002 g0016 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03579 hp2 a0001 c0001 t0002 g0214 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03654 hp1 a0001 c0001 t0002 g0017 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03654 hp2 a0001 c0001 t0003 g0145 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03669 hp1 a0001 c0001 t0003 g0148 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03669 hp2 a0001 c0001 t0001 g0219 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03688 hp1 a0001 c0001 t0004 g0112 SAS STU ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03688 hp2 a0001 c0001 t0003 g0139 SAS STU ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03704 hp1 a0001 c0001 t0001 g0226 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03704 hp2 a0001 c0001 t0002 g0034 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03710 hp1 a0001 c0001 t0001 g0079 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03710 hp2 a0001 c0001 t0004 g0124 SAS PJL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03831 hp1 a0001 c0001 t0003 g0130 SAS BEB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03831 hp2 a0001 c0001 t0003 g0138 SAS BEB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03834 hp1 a0001 c0001 t0003 g0141 SAS BEB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03834 hp2 a0001 c0001 t0004 g0109 SAS BEB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03942 hp1 a0001 c0001 t0003 g0144 SAS BEB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03942 hp2 a0001 c0001 t0001 g0031 SAS BEB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG04184 hp1 a0001 c0001 t0001 g0032 SAS BEB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG04184 hp2 a0001 c0001 t0003 g0142 SAS BEB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG04199 hp1 a0001 c0001 t0003 g0096 SAS STU ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG04199 hp2 a0001 c0001 t0002 g0035 SAS STU ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG04204 hp1 a0001 c0001 t0002 g0256 SAS STU ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG04204 hp2 a0001 c0001 t0001 g0231 SAS STU ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG04228 hp1 a0001 c0001 t0001 g0085 SAS STU ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG04228 hp2 a0001 c0001 t0011 g0279 SAS STU ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18522 hp1 a0001 c0001 t0002 g0209 AFR YRI ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18522 hp2 a0001 c0001 t0003 g0182 AFR YRI ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18612 hp1 a0001 c0001 t0003 g0167 EAS CHB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18612 hp2 a0001 c0001 t0002 g0205 EAS CHB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18747 hp1 a0001 c0001 t0001 g0227 EAS CHB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18747 hp2 a0001 c0001 t0003 g0002 EAS CHB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18906 hp1 a0001 c0001 t0002 g0264 AFR YRI ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18906 hp2 a0003 c0004 t0005 g0133 AFR YRI ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18939 hp1 a0001 c0001 t0002 g0262 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18939 hp2 a0001 c0001 t0001 g0268 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18941 hp1 a0001 c0001 t0001 g0006 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18941 hp2 a0001 c0001 t0003 g0161 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18942 hp1 a0001 c0001 t0001 g0281 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18942 hp2 a0001 c0001 t0001 g0099 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18943 hp1 a0001 c0001 t0005 g0132 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18943 hp2 a0001 c0001 t0006 g0053 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18944 hp1 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18944 hp2 a0001 c0001 t0002 g0019 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18945 hp1 a0001 c0001 t0001 g0280 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18945 hp2 a0001 c0001 t0001 g0045 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18946 hp1 a0001 c0001 t0004 g0199 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18946 hp2 a0001 c0001 t0003 g0174 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18947 hp1 a0001 c0001 t0001 g0232 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18947 hp2 a0001 c0001 t0001 g0299 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18948 hp1 a0001 c0001 t0006 g0018 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18948 hp2 a0001 c0001 t0004 g0105 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18950 hp1 a0001 c0001 t0001 g0006 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18950 hp2 a0001 c0001 t0004 g0009 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18951 hp1 a0001 c0001 t0001 g0021 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18951 hp2 a0001 c0001 t0002 g0208 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18952 hp1 a0001 c0001 t0006 g0060 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18952 hp2 a0001 c0001 t0002 g0063 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18953 hp1 a0001 c0001 t0001 g0283 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18953 hp2 a0001 c0001 t0001 g0225 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18957 hp1 a0001 c0001 t0002 g0007 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18957 hp2 a0001 c0001 t0003 g0010 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18959 hp1 a0001 c0001 t0009 g0044 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18959 hp2 a0001 c0001 t0003 g0010 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18960 hp1 a0001 c0001 t0001 g0020 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18960 hp2 a0001 c0001 t0003 g0178 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18963 hp1 a0001 c0001 t0002 g0228 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18963 hp2 a0001 c0001 t0001 g0253 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18966 hp1 a0001 c0001 t0002 g0221 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18966 hp2 a0001 c0001 t0004 g0104 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18967 hp1 a0001 c0001 t0003 g0155 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18967 hp2 a0001 c0001 t0001 g0006 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18968 hp1 a0001 c0001 t0004 g0113 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18968 hp2 a0001 c0001 t0001 g0042 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18969 hp1 a0001 c0001 t0002 g0003 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18969 hp2 a0001 c0001 t0001 g0042 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18971 hp1 a0001 c0001 t0001 g0216 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18971 hp2 a0001 c0001 t0001 g0242 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18972 hp1 a0001 c0001 t0002 g0037 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18972 hp2 a0001 c0001 t0001 g0238 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18975 hp1 a0001 c0001 t0002 g0003 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18975 hp2 a0001 c0001 t0002 g0245 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18978 hp1 a0001 c0001 t0003 g0150 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18978 hp2 a0001 c0001 t0001 g0006 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18979 hp1 a0001 c0001 t0002 g0193 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18979 hp2 a0001 c0001 t0003 g0027 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18981 hp1 a0001 c0001 t0001 g0066 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18981 hp2 a0001 c0001 t0001 g0192 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18982 hp1 a0001 c0001 t0001 g0005 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18982 hp2 a0001 c0001 t0003 g0010 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18983 hp1 a0001 c0001 t0002 g0007 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18983 hp2 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18984 hp1 a0001 c0001 t0002 g0257 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18984 hp2 a0001 c0001 t0004 g0024 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18985 hp1 a0001 c0001 t0002 g0003 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18985 hp2 a0001 c0001 t0004 g0024 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18986 hp1 a0001 c0001 t0002 g0003 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18986 hp2 a0001 c0001 t0001 g0215 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18987 hp1 a0001 c0001 t0002 g0207 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18987 hp2 a0001 c0001 t0006 g0052 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18988 hp1 a0001 c0001 t0002 g0234 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18988 hp2 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18990 hp1 a0001 c0001 t0003 g0025 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18990 hp2 a0001 c0001 t0001 g0005 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18991 hp1 a0001 c0001 t0006 g0055 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18991 hp2 a0001 c0001 t0001 g0012 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18992 hp1 a0001 c0001 t0002 g0191 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18992 hp2 a0001 c0001 t0003 g0010 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18993 hp1 a0001 c0001 t0002 g0233 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18993 hp2 a0001 c0001 t0001 g0236 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18997 hp1 a0001 c0001 t0003 g0151 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18997 hp2 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18998 hp1 a0001 c0001 t0006 g0057 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18998 hp2 a0001 c0001 t0005 g0163 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18999 hp1 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA18999 hp2 a0001 c0001 t0002 g0282 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19000 hp1 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19000 hp2 a0001 c0001 t0004 g0121 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19002 hp1 a0001 c0001 t0003 g0027 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19002 hp2 a0001 c0001 t0004 g0106 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19003 hp1 a0001 c0001 t0006 g0054 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19003 hp2 a0001 c0001 t0002 g0249 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19005 hp1 a0001 c0001 t0006 g0086 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19005 hp2 a0001 c0001 t0002 g0033 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19006 hp1 a0001 c0001 t0001 g0241 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19006 hp2 a0001 c0001 t0001 g0300 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19007 hp1 a0001 c0001 t0002 g0003 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19007 hp2 a0001 c0001 t0001 g0005 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19010 hp1 a0001 c0001 t0003 g0162 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19010 hp2 a0001 c0001 t0003 g0173 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19011 hp1 a0001 c0001 t0006 g0058 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19011 hp2 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19012 hp1 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19012 hp2 a0001 c0001 t0004 g0094 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19030 hp1 a0001 c0001 t0003 g0098 AFR LWK ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19030 hp2 a0001 c0001 t0002 g0285 AFR LWK ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19043 hp1 a0001 c0002 t0003 g0305 AFR LWK ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19043 hp2 a0001 c0001 t0003 g0175 AFR LWK ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19054 hp1 a0001 c0001 t0003 g0152 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19054 hp2 a0001 c0001 t0001 g0021 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19057 hp1 a0001 c0001 t0001 g0070 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19057 hp2 a0001 c0001 t0002 g0255 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19058 hp1 a0001 c0001 t0004 g0009 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19058 hp2 a0001 c0001 t0001 g0198 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19059 hp1 a0001 c0001 t0002 g0206 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19059 hp2 a0001 c0001 t0001 g0204 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19060 hp1 a0001 c0001 t0002 g0223 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19060 hp2 a0001 c0001 t0003 g0013 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19062 hp1 a0001 c0001 t0001 g0230 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19062 hp2 a0001 c0001 t0002 g0003 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19064 hp1 a0001 c0001 t0001 g0250 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19064 hp2 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19065 hp1 a0002 c0003 t0004 g0115 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19065 hp2 a0001 c0001 t0001 g0298 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19066 hp1 a0001 c0001 t0003 g0186 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19066 hp2 a0001 c0001 t0004 g0114 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19068 hp1 a0001 c0001 t0001 g0005 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19068 hp2 a0001 c0001 t0001 g0240 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19070 hp1 a0001 c0001 t0001 g0020 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19070 hp2 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19077 hp1 a0001 c0001 t0001 g0229 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19077 hp2 a0001 c0001 t0006 g0018 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19080 hp1 a0001 c0001 t0001 g0001 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19080 hp2 a0001 c0001 t0002 g0033 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19081 hp1 a0001 c0001 t0004 g0009 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19081 hp2 a0001 c0001 t0003 g0153 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19082 hp1 a0001 c0001 t0003 g0154 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19082 hp2 a0001 c0001 t0002 g0008 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19083 hp1 a0001 c0001 t0006 g0195 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19083 hp2 a0001 c0001 t0001 g0220 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19084 hp1 a0001 c0001 t0002 g0008 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19084 hp2 a0001 c0001 t0001 g0005 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19085 hp1 a0001 c0005 t0001 g0270 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19085 hp2 a0001 c0001 t0001 g0237 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19088 hp1 a0001 c0001 t0001 g0005 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19088 hp2 a0001 c0001 t0002 g0007 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19089 hp1 a0001 c0001 t0002 g0269 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19089 hp2 a0001 c0001 t0001 g0061 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19090 hp1 a0001 c0001 t0001 g0222 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19090 hp2 a0001 c0001 t0004 g0117 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19091 hp1 a0001 c0001 t0001 g0217 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19091 hp2 a0002 c0003 t0004 g0116 EAS JPT ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19240 hp1 a0001 c0001 t0002 g0243 AFR YRI ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA19240 hp2 a0001 c0001 t0005 g0180 AFR YRI ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA20129 hp1 a0001 c0001 t0001 g0072 AFR ASW ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA20129 hp2 a0001 c0001 t0001 g0287 AFR ASW ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA20752 hp1 a0001 c0001 t0003 g0146 EUR TSI ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA20752 hp2 a0001 c0001 t0001 g0050 EUR TSI ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA20905 hp1 a0001 c0001 t0001 g0001 SAS GIH ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA20905 hp2 a0001 c0001 t0003 g0177 SAS GIH ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01123 hp1 a0001 c0001 t0001 g0275 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG01123 hp2 a0001 c0001 t0004 g0103 AMR CLM ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02109 hp1 a0001 c0001 t0007 g0014 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02109 hp2 a0001 c0002 t0003 g0306 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02486 hp1 a0001 c0001 t0003 g0013 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02486 hp2 a0001 c0001 t0001 g0001 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02559 hp1 a0001 c0001 t0005 g0029 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG02559 hp2 a0001 c0001 t0002 g0038 AFR ACB ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03471 hp1 a0001 c0001 t0002 g0011 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG03471 hp2 a0001 c0001 t0002 g0203 AFR MSL ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG06807 hp1 a0001 c0001 t0003 g0134 AFR USA ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
HG06807 hp2 a0001 c0001 t0005 g0136 AFR USA ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA20300 hp1 a0001 c0001 t0002 g0263 AFR USA ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA20300 hp2 a0001 c0001 t0003 g0002 AFR USA ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA21309 hp1 a0001 c0002 t0003 g0302 AFR LWK ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
NA21309 hp2 a0001 c0001 t0003 g0157 AFR LWK ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
homoSapiens_chm13v2 hp1 a0001 c0001 t0002 g0273 REF REF ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577
homoSapiens_grch38 hp1 a0001 c0001 t0004 g0119 REF REF ATP6V1E2_chr2_46506847_46547577 ATP6V1E2 chr2 46506847 46547577

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr2:46512303 G
G
 A
A
 1 a0003
a0003
 2 HG02970.hp1
NA18906.hp2
HG02970.hp1
NA18906.hp2
 missense_variant MODERATE c.409C>T
c.409C>T
 p.Arg137Trp
p.Arg137Trp
 ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 1143/1599 409/681 137/226 chr2 46512303
chr2:46512374 T
T
 G
G
 1 a0005
a0005
 1 HG00544.hp2
HG00544.hp2
 missense_variant MODERATE c.338A>C
c.338A>C
 p.Gln113Pro
p.Gln113Pro
 ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 1072/1599 338/681 113/226 chr2 46512374
chr2:46512576 C
C
 T
T
 1 a0002
a0002
 2 NA19065.hp1
NA19091.hp2
NA19065.hp1
NA19091.hp2
 missense_variant MODERATE c.136G>A
c.136G>A
 p.Val46Met
p.Val46Met
 ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 870/1599 136/681 46/226 chr2 46512576
chr2:46512581 C
C
 T
T
 1 a0004
a0004
 1 HG02129.hp2
HG02129.hp2
 missense_variant MODERATE c.131G>A
c.131G>A
 p.Arg44His
p.Arg44His
 ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 865/1599 131/681 44/226 chr2 46512581
chr2:46512621 C
C
 T
T
 1 a0006
a0006
 1 HG02630.hp1
HG02630.hp1
 missense_variant MODERATE c.91G>A
c.91G>A
 p.Asp31Asn
p.Asp31Asn
 ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 825/1599 91/681 31/226 chr2 46512621

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr2:46512349 G
G
 A
A
 1 a0001c0008
a0001c0008
 1 HG02818.hp2
HG02818.hp2
 synonymous_variant LOW c.363C>T
c.363C>T
 p.Leu121Leu
p.Leu121Leu
 ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 1097/1599 363/681 121/226 chr2 46512349
chr2:46512544 A
A
 G
G
 1 a0001c0002
a0001c0002
 10 HG01109.hp2
HG01175.hp2
HG02109.hp2
others(7): Show 
HG01109.hp2
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19043.hp1
NA21309.hp1
 synonymous_variant LOW c.168T>C
c.168T>C
 p.Tyr56Tyr
p.Tyr56Tyr
 ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 902/1599 168/681 56/226 chr2 46512544
chr2:46512691 A
A
 G
G
 1 a0001c0005
a0001c0005
 1 NA19085.hp1
NA19085.hp1
 synonymous_variant LOW c.21T>C
c.21T>C
 p.Asp7Asp
p.Asp7Asp
 ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 755/1599 21/681 7/226 chr2 46512691

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr2:46512018 A
A
 G
G
 9 a0001c0001t0001
a0001c0001t0005
a0001c0001t0006
others(6): Show 
a0001c0001t0001
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0005t0001
a0003c0004t0005
a0005c0009t0001
a0006c0006t0007
 189 HG00280.hp1
HG00323.hp1
HG00408.hp2
others(186): Show 
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19057.hp1
NA19058.hp2
NA19059.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*13T>C
c.*13T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 13 chr2 46512018
chr2:46512753 C
C
 T
T
 1 a0001c0001t0010
a0001c0001t0010
 1 HG01433.hp1
HG01433.hp1
 5_prime_UTR_variant MODIFIER c.-42G>A
c.-42G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 5/5 42 chr2 46512753
chr2:46535856 A
A
 G
G
 1 a0001c0001t0006
a0001c0001t0006
 13 HG02040.hp1
HG02155.hp2
NA18943.hp2
others(10): Show 
HG02040.hp1
HG02155.hp2
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19077.hp2
NA19083.hp1
 5_prime_UTR_variant MODIFIER c.-145T>C
c.-145T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/5 23145 chr2 46535856
chr2:46541404 A
A
 C
C
 16 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(13): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0005
a0001c0001t0006
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0002t0002
a0001c0002t0003
a0001c0005t0001
a0001c0008t0002
a0003c0004t0005
a0004c0007t0002
a0005c0009t0001
 372 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(369): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-324T>G
c.-324T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/5 28693 chr2 46541404
chr2:46541420 G
G
 A
A
 5 a0001c0001t0003
a0001c0001t0005
a0001c0001t0010
others(2): Show 
a0001c0001t0003
a0001c0001t0005
a0001c0001t0010
a0001c0002t0003
a0003c0004t0005
 107 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(104): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01099.hp1
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02027.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18946.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18967.hp1
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18990.hp1
NA18992.hp2
NA18997.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19066.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 5_prime_UTR_variant MODIFIER c.-340C>T
c.-340C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/5 28709 chr2 46541420
chr2:46541427 G
G
 C
C
 1 a0001c0001t0011
a0001c0001t0011
 1 HG04228.hp2
HG04228.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-347C>G
c.-347C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/5 chr2 46541427
chr2:46542451 G
G
 T
T
 1 a0001c0001t0009
a0001c0001t0009
 1 NA18959.hp1
NA18959.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-608C>A
c.-608C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/5 chr2 46542451
chr2:46542468 C
C
 T
T
 1 a0001c0001t0008
a0001c0001t0008
 1 HG03491.hp2
HG03491.hp2
 5_prime_UTR_variant MODIFIER c.-625G>A
c.-625G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/5 29757 chr2 46542468

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr2:46512842 A
A
 G
G
 2 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0194
a0001c0001t0001g0224
 2 HG02602.hp1
HG03490.hp1
HG02602.hp1
HG03490.hp1
 intron_variant MODIFIER c.-101-30T>C
c.-101-30T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46512842
chr2:46512889 C
C
 T
T
 1 a0001c0001t0003g0167
a0001c0001t0003g0167
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.-101-77G>A
c.-101-77G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46512889
chr2:46513193 TCAGCCAG
others(9): Show 
TCAGCCAGGATTTAATC
 T
T
 72 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(69): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0194
a0001c0001t0001g0219
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
 77 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(74): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02965.hp1
HG03195.hp2
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp2
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18953.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-397_-101-382d
others(18): Show 
c.-101-397_-101-382delGATTAAATCCTGGCTG
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513193
chr2:46513198 C
C
 CAGGATTT
others(9): Show 
CAGGATTTAATCCAGAA
 68 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0005c0009t0001g0218
a0006c0006t0007g0296
 110 HG00408.hp2
HG00544.hp1
HG00544.hp2
others(107): Show 
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG01109.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp1
HG02486.hp2
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03486.hp2
HG03491.hp2
HG03704.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18993.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19058.hp2
NA19059.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.-101-387_-101-386i
others(18): Show 
c.-101-387_-101-386insTTCTGGATTAAATCCT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513198
chr2:46513277 G
G
 C
C
 1 a0001c0001t0001g0211
a0001c0001t0001g0211
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.-101-465C>G
c.-101-465C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513277
chr2:46513336 C
C
 T
T
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-524G>A
c.-101-524G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513336
chr2:46513385 C
C
 T
T
 268 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(265): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0109
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0007g0196
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 362 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(359): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-573G>A
c.-101-573G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513385
chr2:46513519 C
C
 A
A
 136 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(133): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0004g0109
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0007g0196
a0001c0001t0008g0043
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0005c0009t0001g0218
a0006c0006t0007g0296
 183 HG00280.hp1
HG00408.hp2
HG00544.hp1
others(180): Show 
HG00280.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19057.hp1
NA19058.hp2
NA19059.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.-101-707G>T
c.-101-707G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513519
chr2:46513781 C
C
 T
T
 1 a0001c0001t0004g0112
a0001c0001t0004g0112
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.-101-969G>A
c.-101-969G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513781
chr2:46513786 C
C
 T
T
 4 a0001c0001t0002g0272
a0001c0001t0002g0274
a0001c0001t0003g0041
others(1): Show 
a0001c0001t0002g0272
a0001c0001t0002g0274
a0001c0001t0003g0041
a0001c0001t0003g0297
 5 HG00735.hp2
HG01257.hp2
HG01261.hp1
others(2): Show 
HG00735.hp2
HG01257.hp2
HG01261.hp1
HG01361.hp2
HG02300.hp1
 intron_variant MODIFIER c.-101-974G>A
c.-101-974G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513786
chr2:46513987 A
A
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-101-1175T>C
c.-101-1175T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513987
chr2:46513997 G
G
 A
A
 9 a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
others(6): Show 
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 10 HG01109.hp2
HG01175.hp2
HG02109.hp2
others(7): Show 
HG01109.hp2
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-1185C>T
c.-101-1185C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46513997
chr2:46514055 G
G
 A
A
 136 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(133): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0004g0109
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0007g0196
a0001c0001t0008g0043
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0005c0009t0001g0218
a0006c0006t0007g0296
 183 HG00280.hp1
HG00408.hp2
HG00544.hp1
others(180): Show 
HG00280.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18960.hp1
NA18963.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19057.hp1
NA19058.hp2
NA19059.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.-101-1243C>T
c.-101-1243C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46514055
chr2:46514254 G
G
 C
C
 1 a0001c0002t0003g0305
a0001c0002t0003g0305
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-101-1442C>G
c.-101-1442C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46514254
chr2:46514295 T
T
 TAAAAAGA
TAAAAAGA
 120 a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
others(117): Show 
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0008t0002g0292
a0004c0007t0002g0246
 166 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(163): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00597.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02129.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18951.hp2
NA18952.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18966.hp1
NA18969.hp1
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp1
NA18992.hp2
NA18997.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19057.hp2
NA19059.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19066.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-1490_-101-148
others(11): Show 
c.-101-1490_-101-1484dupTCTTTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46514295
chr2:46514483 A
A
 T
T
 2 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0194
a0001c0001t0001g0224
 2 HG02602.hp1
HG03490.hp1
HG02602.hp1
HG03490.hp1
 intron_variant MODIFIER c.-101-1671T>A
c.-101-1671T>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46514483
chr2:46514806 C
C
 T
T
 1 a0001c0001t0003g0130
a0001c0001t0003g0130
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-101-1994G>A
c.-101-1994G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46514806
chr2:46514902 C
C
 A
A
 85 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
others(82): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0252
a0001c0001t0001g0265
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 91 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(88): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18953.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-101-2090G>T
c.-101-2090G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46514902
chr2:46514921 A
A
 G
G
 1 a0001c0001t0002g0284
a0001c0001t0002g0284
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-101-2109T>C
c.-101-2109T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46514921
chr2:46514975 T
T
 C
C
 7 a0001c0001t0002g0017
a0001c0001t0002g0272
a0001c0001t0002g0273
others(4): Show 
a0001c0001t0002g0017
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0003g0041
a0001c0001t0003g0297
 10 HG00735.hp2
HG01167.hp1
HG01257.hp2
others(7): Show 
HG00735.hp2
HG01167.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp2
HG02280.hp2
HG02300.hp1
HG03239.hp1
HG03654.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-2163A>G
c.-101-2163A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46514975
chr2:46515046 A
A
 C
C
 1 a0001c0001t0001g0227
a0001c0001t0001g0227
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.-101-2234T>G
c.-101-2234T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515046
chr2:46515102 A
A
 G
G
 11 a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0002t0002g0030
others(8): Show 
a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 12 HG01109.hp2
HG01175.hp2
HG02109.hp2
others(9): Show 
HG01109.hp2
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19043.hp1
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-2290T>C
c.-101-2290T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515102
chr2:46515148 T
T
 C
C
 1 a0001c0001t0002g0063
a0001c0001t0002g0063
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.-101-2336A>G
c.-101-2336A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515148
chr2:46515248 T
T
 C
C
 3 a0001c0001t0001g0252
a0001c0001t0006g0053
a0001c0001t0006g0056
a0001c0001t0001g0252
a0001c0001t0006g0053
a0001c0001t0006g0056
 3 HG02040.hp2
HG02155.hp2
NA18943.hp2
HG02040.hp2
HG02155.hp2
NA18943.hp2
 intron_variant MODIFIER c.-101-2436A>G
c.-101-2436A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515248
chr2:46515344 A
A
 G
G
 2 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0194
a0001c0001t0001g0224
 2 HG02602.hp1
HG03490.hp1
HG02602.hp1
HG03490.hp1
 intron_variant MODIFIER c.-101-2532T>C
c.-101-2532T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515344
chr2:46515426 C
C
 A
A
 172 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(169): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 259 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(256): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-2614G>T
c.-101-2614G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515426
chr2:46515590 C
C
 A
A
 55 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
others(52): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0004g0109
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0108
a0001c0001t0007g0110
 58 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(55): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02698.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19057.hp1
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-2778G>T
c.-101-2778G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515590
chr2:46515595 G
G
 C
C
 18 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
others(15): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0180
a0001c0001t0005g0181
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 19 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(16): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03486.hp2
HG06807.hp2
NA18906.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-2783C>G
c.-101-2783C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515595
chr2:46515618 G
G
 A
A
 55 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
others(52): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0004g0109
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0108
a0001c0001t0007g0110
 58 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(55): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02698.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19057.hp1
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-2806C>T
c.-101-2806C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515618
chr2:46515654 G
G
 C
C
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.-101-2842C>G
c.-101-2842C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515654
chr2:46515813 C
C
 T
T
 85 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
others(82): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0252
a0001c0001t0001g0265
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 91 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(88): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18953.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-101-3001G>A
c.-101-3001G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515813
chr2:46515986 T
T
 C
C
 66 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(63): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0001t0004g0109
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
 71 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(68): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02965.hp1
HG03195.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-3174A>G
c.-101-3174A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46515986
chr2:46516025 T
T
 C
C
 9 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0240
others(6): Show 
a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0295
a0001c0001t0003g0175
 9 HG02602.hp1
HG02818.hp1
HG03490.hp1
others(6): Show 
HG02602.hp1
HG02818.hp1
HG03490.hp1
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA19006.hp1
NA19043.hp2
NA19068.hp2
 intron_variant MODIFIER c.-101-3213A>G
c.-101-3213A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516025
chr2:46516046 CA
CA
 C
C
 5 a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
others(2): Show 
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
 5 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(2): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA19006.hp1
NA19068.hp2
 intron_variant MODIFIER c.-101-3235delT
c.-101-3235delT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516046
chr2:46516076 T
T
 C
C
 5 a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
others(2): Show 
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0007g0014
a0001c0001t0007g0196
 7 HG01081.hp1
HG02109.hp1
HG02145.hp2
others(4): Show 
HG01081.hp1
HG02109.hp1
HG02145.hp2
HG02717.hp1
HG02723.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.-101-3264A>G
c.-101-3264A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516076
chr2:46516330 C
C
 A
A
 2 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0290
a0001c0001t0001g0291
 2 HG02886.hp1
HG02976.hp2
HG02886.hp1
HG02976.hp2
 intron_variant MODIFIER c.-101-3518G>T
c.-101-3518G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516330
chr2:46516355 G
G
 A
A
 3 a0001c0001t0004g0109
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0004g0109
a0001c0001t0007g0108
a0001c0001t0007g0110
 3 HG00735.hp1
HG01192.hp1
HG03834.hp2
HG00735.hp1
HG01192.hp1
HG03834.hp2
 intron_variant MODIFIER c.-101-3543C>T
c.-101-3543C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516355
chr2:46516421 G
G
 A
A
 1 a0001c0001t0003g0165
a0001c0001t0003g0165
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-101-3609C>T
c.-101-3609C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516421
chr2:46516618 G
G
 A
A
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-3806C>T
c.-101-3806C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516618
chr2:46516660 T
T
 C
C
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.-101-3848A>G
c.-101-3848A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516660
chr2:46516740 T
T
 TA
TA
 71 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(68): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0194
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
 76 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(73): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02965.hp1
HG03195.hp2
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18953.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-3929dupT
c.-101-3929dupT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516740
chr2:46516740 TA
TA
 T
T
 183 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(180): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 271 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(268): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-3929delT
c.-101-3929delT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516740
chr2:46516895 T
T
 C
C
 5 a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
others(2): Show 
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0007g0014
a0001c0001t0007g0196
 7 HG01081.hp1
HG02109.hp1
HG02145.hp2
others(4): Show 
HG01081.hp1
HG02109.hp1
HG02145.hp2
HG02717.hp1
HG02723.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.-101-4083A>G
c.-101-4083A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46516895
chr2:46517070 C
C
 G
G
 2 a0001c0001t0003g0144
a0001c0001t0011g0279
a0001c0001t0003g0144
a0001c0001t0011g0279
 2 HG03942.hp1
HG04228.hp2
HG03942.hp1
HG04228.hp2
 intron_variant MODIFIER c.-101-4258G>C
c.-101-4258G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517070
chr2:46517255 T
T
 C
C
 1 a0001c0001t0002g0190
a0001c0001t0002g0190
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.-101-4443A>G
c.-101-4443A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517255
chr2:46517258 T
T
 C
C
 1 a0001c0001t0002g0205
a0001c0001t0002g0205
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.-101-4446A>G
c.-101-4446A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517258
chr2:46517282 T
T
 A
A
 2 a0001c0001t0002g0008
a0001c0001t0002g0207
a0001c0001t0002g0008
a0001c0001t0002g0207
 6 HG00408.hp1
HG02071.hp2
HG02165.hp2
others(3): Show 
HG00408.hp1
HG02071.hp2
HG02165.hp2
NA18987.hp1
NA19082.hp2
NA19084.hp1
 intron_variant MODIFIER c.-101-4470A>T
c.-101-4470A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517282
chr2:46517284 C
C
 G
G
 55 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
others(52): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0004g0109
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0108
a0001c0001t0007g0110
 58 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(55): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02698.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19057.hp1
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-4472G>C
c.-101-4472G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517284
chr2:46517319 C
C
 A
A
 59 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(56): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0004g0109
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0108
a0001c0001t0007g0110
 62 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(59): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19057.hp1
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-4507G>T
c.-101-4507G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517319
chr2:46517356 G
G
 A
A
 89 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(86): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0252
a0001c0001t0001g0265
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 95 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(92): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18953.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-101-4544C>T
c.-101-4544C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517356
chr2:46517395 C
C
 T
T
 1 a0001c0001t0002g0284
a0001c0001t0002g0284
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-101-4583G>A
c.-101-4583G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517395
chr2:46517433 C
C
 A
A
 2 a0001c0001t0005g0029
a0001c0001t0005g0181
a0001c0001t0005g0029
a0001c0001t0005g0181
 3 HG01109.hp1
HG01891.hp2
HG02559.hp1
HG01109.hp1
HG01891.hp2
HG02559.hp1
 intron_variant MODIFIER c.-101-4621G>T
c.-101-4621G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517433
chr2:46517838 G
G
 C
C
 1 a0001c0001t0001g0230
a0001c0001t0001g0230
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.-101-5026C>G
c.-101-5026C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517838
chr2:46517885 G
G
 A
A
 89 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(86): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0252
a0001c0001t0001g0265
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 95 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(92): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18953.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-101-5073C>T
c.-101-5073C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517885
chr2:46517907 T
T
 C
C
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-101-5095A>G
c.-101-5095A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46517907
chr2:46518005 G
G
 C
C
 1 a0001c0001t0002g0284
a0001c0001t0002g0284
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-101-5193C>G
c.-101-5193C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518005
chr2:46518285 C
C
 T
T
 89 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(86): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0252
a0001c0001t0001g0265
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 95 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(92): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18953.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-101-5473G>A
c.-101-5473G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518285
chr2:46518313 A
A
 T
T
 89 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(86): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0252
a0001c0001t0001g0265
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 95 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(92): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18953.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19006.hp1
NA19011.hp1
NA19057.hp1
NA19068.hp2
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-101-5501T>A
c.-101-5501T>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518313
chr2:46518405 G
G
 C
C
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 2 NA18960.hp1
NA19070.hp1
NA18960.hp1
NA19070.hp1
 intron_variant MODIFIER c.-101-5593C>G
c.-101-5593C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518405
chr2:46518430 C
C
 T
T
 1 a0001c0001t0003g0127
a0001c0001t0003g0127
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.-101-5618G>A
c.-101-5618G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518430
chr2:46518475 TACACACA
others(26): Show 
TACACACACACACACAACACACACACACACACAC
 T
T
 1 a0001c0001t0001g0219
a0001c0001t0001g0219
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.-101-5696_-101-566
others(37): Show 
c.-101-5696_-101-5664delGTGTGTGTGTGTGTGTGTTGTGTGTG
TGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518475
chr2:46518490 A
A
 AAC
AAC
 12 a0001c0001t0001g0231
a0001c0001t0002g0093
a0001c0001t0002g0233
others(9): Show 
a0001c0001t0001g0231
a0001c0001t0002g0093
a0001c0001t0002g0233
a0001c0001t0003g0154
a0001c0001t0004g0104
a0001c0001t0004g0122
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0180
a0001c0001t0005g0181
 13 HG01109.hp1
HG01891.hp2
HG02132.hp1
others(10): Show 
HG01109.hp1
HG01891.hp2
HG02132.hp1
HG02257.hp1
HG02559.hp1
HG03017.hp2
HG03139.hp1
HG04204.hp2
HG06807.hp2
NA18966.hp2
NA18993.hp1
NA19082.hp1
NA19240.hp2
 intron_variant MODIFIER c.-101-5680_-101-567
others(6): Show 
c.-101-5680_-101-5679dupGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACAC
AACAC
 3 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0004g0200
a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0004g0200
 3 HG01255.hp1
HG02602.hp1
HG03490.hp1
HG01255.hp1
HG02602.hp1
HG03490.hp1
 intron_variant MODIFIER c.-101-5682_-101-567
others(8): Show 
c.-101-5682_-101-5679dupGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACAC
AACACAC
 13 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0252
others(10): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0252
a0001c0001t0001g0287
a0001c0001t0003g0175
a0001c0001t0006g0018
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0058
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
 14 HG01884.hp2
HG02040.hp2
HG02155.hp2
others(11): Show 
HG01884.hp2
HG02040.hp2
HG02155.hp2
HG02647.hp1
NA18948.hp1
NA18952.hp1
NA18991.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19043.hp2
NA19077.hp2
NA19083.hp1
NA20129.hp2
 intron_variant MODIFIER c.-101-5684_-101-567
others(10): Show 
c.-101-5684_-101-5679dupGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACACA
others(1): Show 
AACACACAC
 15 a0001c0001t0001g0051
a0001c0001t0001g0064
a0001c0001t0001g0072
others(12): Show 
a0001c0001t0001g0051
a0001c0001t0001g0064
a0001c0001t0001g0072
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0276
a0001c0001t0004g0109
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0057
a0001c0001t0006g0059
a0001c0001t0007g0108
a0001c0001t0007g0110
 15 HG00597.hp2
HG00735.hp1
HG01074.hp2
others(12): Show 
HG00597.hp2
HG00735.hp1
HG01074.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01952.hp1
HG02040.hp1
HG02698.hp1
HG03239.hp2
HG03834.hp2
NA18943.hp2
NA18987.hp2
NA18998.hp1
NA20129.hp1
 intron_variant MODIFIER c.-101-5686_-101-567
others(12): Show 
c.-101-5686_-101-5679dupGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACACA
others(3): Show 
AACACACACAC
 4 a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0062
others(1): Show 
a0001c0001t0001g0023
a0001c0001t0001g0050
a0001c0001t0001g0062
a0001c0001t0001g0084
 5 HG01070.hp1
HG01071.hp2
HG01496.hp1
others(2): Show 
HG01070.hp1
HG01071.hp2
HG01496.hp1
HG01978.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-5688_-101-567
others(14): Show 
c.-101-5688_-101-5679dupGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACACA
others(5): Show 
AACACACACACAC
 3 a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0222
a0001c0001t0001g0069
a0001c0001t0001g0075
a0001c0001t0001g0222
 3 HG01981.hp1
HG02273.hp1
NA19090.hp1
HG01981.hp1
HG02273.hp1
NA19090.hp1
 intron_variant MODIFIER c.-101-5690_-101-567
others(16): Show 
c.-101-5690_-101-5679dupGTGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACACA
others(7): Show 
AACACACACACACAC
 6 a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0085
others(3): Show 
a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0092
a0001c0001t0001g0275
a0001c0001t0001g0277
 6 HG01099.hp2
HG01123.hp1
HG01346.hp1
others(3): Show 
HG01099.hp2
HG01123.hp1
HG01346.hp1
HG02148.hp2
HG03710.hp1
HG04228.hp1
 intron_variant MODIFIER c.-101-5692_-101-567
others(18): Show 
c.-101-5692_-101-5679dupGTGTGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACACA
others(9): Show 
AACACACACACACACAC
 14 a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
others(11): Show 
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0005g0125
a0001c0001t0005g0172
 14 HG00323.hp1
HG00639.hp1
HG00738.hp1
others(11): Show 
HG00323.hp1
HG00639.hp1
HG00738.hp1
HG01106.hp1
HG01168.hp2
HG01169.hp2
HG01975.hp1
HG01993.hp2
HG02293.hp2
HG02300.hp2
HG02683.hp2
HG02738.hp2
HG03490.hp2
NA19057.hp1
 intron_variant MODIFIER c.-101-5694_-101-567
others(20): Show 
c.-101-5694_-101-5679dupGTGTGTGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACACA
others(11): Show 
AACACACACACACACACAC
 7 a0001c0001t0001g0022
a0001c0001t0001g0077
a0001c0001t0001g0082
others(4): Show 
a0001c0001t0001g0022
a0001c0001t0001g0077
a0001c0001t0001g0082
a0001c0001t0001g0294
a0001c0001t0002g0295
a0001c0001t0005g0149
a0001c0001t0005g0171
 8 HG00639.hp2
HG01167.hp2
HG01516.hp1
others(5): Show 
HG00639.hp2
HG01167.hp2
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG02818.hp1
HG02965.hp1
HG03492.hp1
 intron_variant MODIFIER c.-101-5696_-101-567
others(22): Show 
c.-101-5696_-101-5679dupGTGTGTGTGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACACA
others(13): Show 
AACACACACACACACACACAC
 4 a0001c0001t0001g0073
a0001c0001t0001g0087
a0001c0001t0001g0286
others(1): Show 
a0001c0001t0001g0073
a0001c0001t0001g0087
a0001c0001t0001g0286
a0001c0001t0001g0293
 4 HG00280.hp1
HG02004.hp2
HG02145.hp2
others(1): Show 
HG00280.hp1
HG02004.hp2
HG02145.hp2
HG02717.hp1
 intron_variant MODIFIER c.-101-5698_-101-567
others(24): Show 
c.-101-5698_-101-5679dupGTGTGTGTGTGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 AACACACA
others(15): Show 
AACACACACACACACACACACAC
 2 a0001c0001t0007g0014
a0001c0001t0007g0196
a0001c0001t0007g0014
a0001c0001t0007g0196
 4 HG01081.hp1
HG02109.hp1
HG02723.hp2
others(1): Show 
HG01081.hp1
HG02109.hp1
HG02723.hp2
HG03195.hp2
 intron_variant MODIFIER c.-101-5700_-101-567
others(26): Show 
c.-101-5700_-101-5679dupGTGTGTGTGTGTGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 A
A
 ACACACAC
others(6): Show 
ACACACACACACAC
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.-101-5679_-101-567
others(17): Show 
c.-101-5679_-101-5678insGTGTGTGTGTGTG
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 AAC
AAC
 A
A
 63 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(60): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0232
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0037
a0001c0001t0002g0063
a0001c0001t0002g0193
a0001c0001t0002g0207
a0001c0001t0002g0228
a0001c0001t0002g0243
a0001c0001t0002g0254
a0001c0001t0002g0262
a0001c0001t0002g0285
a0001c0001t0002g0289
a0001c0001t0003g0152
a0001c0001t0003g0158
a0001c0001t0003g0202
a0001c0001t0004g0100
a0001c0001t0005g0132
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0005c0009t0001g0218
a0006c0006t0007g0296
 104 HG00099.hp2
HG00408.hp2
HG00544.hp1
others(101): Show 
HG00099.hp2
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00642.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp2
HG02293.hp1
HG02486.hp2
HG02572.hp1
HG02630.hp1
HG02970.hp1
HG03209.hp2
HG03491.hp2
HG03704.hp1
HG04184.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp2
NA18953.hp2
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18993.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19058.hp2
NA19059.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp2
NA19091.hp1
NA19240.hp1
NA20905.hp1
 intron_variant MODIFIER c.-101-5680_-101-567
others(6): Show 
c.-101-5680_-101-5679delGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 AACAC
AACAC
 A
A
 95 a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0265
others(92): Show 
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0265
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0190
a0001c0001t0002g0203
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0251
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0288
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0153
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0166
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0199
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0008t0002g0292
 138 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(135): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00597.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18966.hp1
NA18969.hp1
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18990.hp1
NA18992.hp2
NA19002.hp1
NA19006.hp1
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19066.hp1
NA19068.hp2
NA19081.hp2
NA19082.hp2
NA19084.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-5682_-101-567
others(8): Show 
c.-101-5682_-101-5679delGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 AACACAC
AACACAC
 A
A
 9 a0001c0001t0001g0239
a0001c0001t0002g0036
a0001c0001t0002g0208
others(6): Show 
a0001c0001t0001g0239
a0001c0001t0002g0036
a0001c0001t0002g0208
a0001c0001t0002g0249
a0001c0001t0002g0255
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0003g0167
 10 HG00609.hp2
HG00741.hp1
HG02258.hp2
others(7): Show 
HG00609.hp2
HG00741.hp1
HG02258.hp2
HG02300.hp1
HG03239.hp1
HG03453.hp2
NA18612.hp1
NA18951.hp2
NA19003.hp2
NA19057.hp2
 intron_variant MODIFIER c.-101-5684_-101-567
others(10): Show 
c.-101-5684_-101-5679delGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 AACACACA
others(1): Show 
AACACACAC
 A
A
 10 a0001c0001t0004g0124
a0001c0002t0002g0030
a0001c0002t0002g0212
others(7): Show 
a0001c0001t0004g0124
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 11 HG01109.hp2
HG01175.hp2
HG02109.hp2
others(8): Show 
HG01109.hp2
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
HG02896.hp2
HG02897.hp2
HG03130.hp2
HG03710.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-5686_-101-567
others(12): Show 
c.-101-5686_-101-5679delGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 AACACACA
others(3): Show 
AACACACACAC
 A
A
 9 a0001c0001t0002g0033
a0001c0001t0002g0206
a0001c0001t0002g0244
others(6): Show 
a0001c0001t0002g0033
a0001c0001t0002g0206
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0269
a0001c0001t0003g0144
a0001c0001t0003g0159
a0001c0001t0011g0279
a0004c0007t0002g0246
 10 HG01361.hp1
HG02056.hp1
HG02129.hp2
others(7): Show 
HG01361.hp1
HG02056.hp1
HG02129.hp2
HG03942.hp1
HG04228.hp2
NA18975.hp2
NA19005.hp2
NA19059.hp1
NA19080.hp2
NA19089.hp1
 intron_variant MODIFIER c.-101-5688_-101-567
others(14): Show 
c.-101-5688_-101-5679delGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518490 AACACACA
others(7): Show 
AACACACACACACAC
 A
A
 4 a0001c0001t0002g0214
a0001c0001t0003g0165
a0001c0001t0003g0179
others(1): Show 
a0001c0001t0002g0214
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0185
 4 HG02630.hp2
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02630.hp2
HG02897.hp1
HG03540.hp2
HG03579.hp2
 intron_variant MODIFIER c.-101-5692_-101-567
others(18): Show 
c.-101-5692_-101-5679delGTGTGTGTGTGTGT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518490
chr2:46518526 A
A
 C
C
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.-101-5714T>G
c.-101-5714T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518526
chr2:46518526 A
A
 G
G
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-5714T>C
c.-101-5714T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518526
chr2:46518674 A
A
 G
G
 1 a0001c0001t0002g0015
a0001c0001t0002g0015
 3 HG01346.hp2
HG01515.hp2
HG01517.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.-101-5862T>C
c.-101-5862T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518674
chr2:46518758 T
T
 TTG
TTG
 21 a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
others(18): Show 
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0252
a0001c0001t0001g0276
a0001c0001t0001g0280
a0001c0001t0001g0294
a0001c0001t0002g0295
a0001c0001t0004g0094
a0001c0001t0004g0104
a0001c0001t0005g0029
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0053
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0060
a0001c0001t0006g0195
a0001c0001t0007g0110
a0001c0002t0003g0306
a0001c0002t0003g0307
 22 HG01109.hp1
HG01192.hp1
HG01891.hp2
others(19): Show 
HG01109.hp1
HG01192.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG02040.hp2
HG02109.hp2
HG02155.hp2
HG02273.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp2
HG02818.hp1
HG02965.hp1
NA18943.hp2
NA18945.hp1
NA18952.hp1
NA18966.hp2
NA18991.hp1
NA19012.hp2
NA19083.hp1
NA19240.hp2
 intron_variant MODIFIER c.-101-5948_-101-594
others(6): Show 
c.-101-5948_-101-5947dupCA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 T
T
 TTGTG
TTGTG
 20 a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
others(17): Show 
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0070
a0001c0001t0001g0091
a0001c0001t0001g0275
a0001c0001t0001g0277
a0001c0001t0001g0293
a0001c0001t0003g0131
a0001c0001t0004g0121
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0171
a0001c0001t0006g0052
a0001c0001t0006g0054
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0002t0003g0301
a0001c0002t0003g0304
 20 HG00323.hp1
HG01074.hp2
HG01123.hp1
others(17): Show 
HG00323.hp1
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp1
HG02809.hp2
HG02896.hp1
NA18987.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19011.hp1
NA19057.hp1
 intron_variant MODIFIER c.-101-5950_-101-594
others(8): Show 
c.-101-5950_-101-5947dupCACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 T
T
 TTGTGTG
TTGTGTG
 14 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(11): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0092
a0001c0001t0001g0241
a0001c0001t0005g0172
a0001c0001t0006g0059
a0001c0001t0006g0086
 16 HG01070.hp1
HG01071.hp2
HG01099.hp2
others(13): Show 
HG01070.hp1
HG01071.hp2
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01928.hp2
HG01934.hp2
HG02040.hp1
HG02148.hp2
HG02293.hp2
HG02738.hp2
HG03490.hp2
HG03710.hp1
NA19005.hp1
NA19006.hp1
NA20129.hp1
 intron_variant MODIFIER c.-101-5952_-101-594
others(10): Show 
c.-101-5952_-101-5947dupCACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 T
T
 TTGTGTGT
others(1): Show 
TTGTGTGTG
 8 a0001c0001t0001g0048
a0001c0001t0001g0073
a0001c0001t0001g0074
others(5): Show 
a0001c0001t0001g0048
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0080
a0001c0001t0001g0089
a0001c0001t0003g0158
a0001c0001t0005g0149
 8 HG01169.hp2
HG01981.hp1
HG01993.hp2
others(5): Show 
HG01169.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02572.hp1
HG02683.hp2
HG03239.hp2
HG03492.hp1
 intron_variant MODIFIER c.-101-5954_-101-594
others(12): Show 
c.-101-5954_-101-5947dupCACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 T
T
 TTGTGTGT
others(3): Show 
TTGTGTGTGTG
 3 a0001c0001t0001g0049
a0001c0001t0001g0087
a0001c0001t0001g0240
a0001c0001t0001g0049
a0001c0001t0001g0087
a0001c0001t0001g0240
 3 HG00280.hp1
HG01978.hp2
NA19068.hp2
HG00280.hp1
HG01978.hp2
NA19068.hp2
 intron_variant MODIFIER c.-101-5956_-101-594
others(14): Show 
c.-101-5956_-101-5947dupCACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 T
T
 TTGTGTGT
others(5): Show 
TTGTGTGTGTGTG
 1 a0001c0001t0001g0085
a0001c0001t0001g0085
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-101-5958_-101-594
others(16): Show 
c.-101-5958_-101-5947dupCACACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 T
T
 TTGTGTGT
others(9): Show 
TTGTGTGTGTGTGTGTG
 1 a0001c0001t0001g0281
a0001c0001t0001g0281
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.-101-5962_-101-594
others(20): Show 
c.-101-5962_-101-5947dupCACACACACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 T
T
 TTGTGTGT
others(13): Show 
TTGTGTGTGTGTGTGTGTGTG
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.-101-5966_-101-594
others(24): Show 
c.-101-5966_-101-5947dupCACACACACACACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTG
TTG
 T
T
 9 a0001c0001t0001g0210
a0001c0001t0002g0093
a0001c0001t0002g0233
others(6): Show 
a0001c0001t0001g0210
a0001c0001t0002g0093
a0001c0001t0002g0233
a0001c0001t0002g0243
a0001c0001t0004g0118
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0007g0014
a0001c0001t0007g0196
 11 HG01081.hp1
HG01884.hp2
HG02109.hp1
others(8): Show 
HG01081.hp1
HG01884.hp2
HG02109.hp1
HG02258.hp1
HG02723.hp2
HG03017.hp2
HG03139.hp1
HG03195.hp2
HG06807.hp2
NA18993.hp1
NA19240.hp1
 intron_variant MODIFIER c.-101-5948_-101-594
others(6): Show 
c.-101-5948_-101-5947delCA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTGTG
TTGTG
 T
T
 21 a0001c0001t0001g0224
a0001c0001t0001g0265
a0001c0001t0001g0287
others(18): Show 
a0001c0001t0001g0224
a0001c0001t0001g0265
a0001c0001t0001g0287
a0001c0001t0002g0007
a0001c0001t0002g0040
a0001c0001t0002g0191
a0001c0001t0002g0205
a0001c0001t0002g0282
a0001c0001t0003g0097
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0004g0106
a0001c0001t0004g0114
a0001c0001t0004g0200
a0001c0001t0005g0128
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0003c0004t0005g0133
 27 HG00140.hp2
HG01081.hp2
HG01106.hp2
others(24): Show 
HG00140.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG02602.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp2
HG03209.hp1
NA18612.hp2
NA18906.hp2
NA18957.hp1
NA18967.hp1
NA18983.hp1
NA18992.hp1
NA18999.hp2
NA19002.hp2
NA19066.hp2
NA19082.hp1
NA19088.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-5950_-101-594
others(8): Show 
c.-101-5950_-101-5947delCACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTGTGTG
TTGTGTG
 T
T
 9 a0001c0001t0001g0194
a0001c0001t0002g0285
a0001c0001t0004g0103
others(6): Show 
a0001c0001t0001g0194
a0001c0001t0002g0285
a0001c0001t0004g0103
a0001c0001t0004g0107
a0001c0001t0004g0113
a0001c0001t0004g0117
a0001c0001t0004g0122
a0002c0003t0004g0116
a0006c0006t0007g0296
 9 HG01071.hp1
HG01123.hp2
HG02132.hp1
others(6): Show 
HG01071.hp1
HG01123.hp2
HG02132.hp1
HG02630.hp1
HG03490.hp1
NA18968.hp1
NA19030.hp2
NA19090.hp2
NA19091.hp2
 intron_variant MODIFIER c.-101-5952_-101-594
others(10): Show 
c.-101-5952_-101-5947delCACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTGTGTGT
others(1): Show 
TTGTGTGTG
 T
T
 6 a0001c0001t0003g0175
a0001c0001t0004g0009
a0001c0001t0004g0024
others(3): Show 
a0001c0001t0003g0175
a0001c0001t0004g0009
a0001c0001t0004g0024
a0001c0001t0004g0105
a0001c0001t0005g0129
a0002c0003t0004g0115
 10 HG00099.hp1
HG03486.hp2
NA18948.hp2
others(7): Show 
HG00099.hp1
HG03486.hp2
NA18948.hp2
NA18950.hp2
NA18984.hp2
NA18985.hp2
NA19043.hp2
NA19058.hp1
NA19065.hp1
NA19081.hp1
 intron_variant MODIFIER c.-101-5954_-101-594
others(12): Show 
c.-101-5954_-101-5947delCACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTGTGTGT
others(5): Show 
TTGTGTGTGTGTG
 T
T
 4 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0005g0137
others(1): Show 
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0005g0137
a0001c0001t0005g0147
 4 HG02572.hp2
HG02886.hp1
HG02976.hp2
others(1): Show 
HG02572.hp2
HG02886.hp1
HG02976.hp2
HG03130.hp1
 intron_variant MODIFIER c.-101-5958_-101-594
others(16): Show 
c.-101-5958_-101-5947delCACACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTGTGTGT
others(7): Show 
TTGTGTGTGTGTGTG
 T
T
 1 a0001c0001t0005g0140
a0001c0001t0005g0140
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-101-5960_-101-594
others(18): Show 
c.-101-5960_-101-5947delCACACACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTGTGTGT
others(15): Show 
TTGTGTGTGTGTGTGTGTGTGTG
 T
T
 1 a0001c0001t0002g0264
a0001c0001t0002g0264
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-101-5968_-101-594
others(26): Show 
c.-101-5968_-101-5947delCACACACACACACACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTGTGTGT
others(17): Show 
TTGTGTGTGTGTGTGTGTGTGTGTG
 T
T
 10 a0001c0001t0001g0231
a0001c0001t0002g0034
a0001c0001t0002g0190
others(7): Show 
a0001c0001t0001g0231
a0001c0001t0002g0034
a0001c0001t0002g0190
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0261
a0001c0008t0002g0292
 11 HG00280.hp2
HG01074.hp1
HG01981.hp2
others(8): Show 
HG00280.hp2
HG01074.hp1
HG01981.hp2
HG02602.hp2
HG02647.hp2
HG02818.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
NA18975.hp2
NA18984.hp1
 intron_variant MODIFIER c.-101-5970_-101-594
others(28): Show 
c.-101-5970_-101-5947delCACACACACACACACACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518758 TTGTGTGT
others(19): Show 
TTGTGTGTGTGTGTGTGTGTGTGTGTG
 T
T
 157 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(154): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0004c0007t0002g0246
a0005c0009t0001g0218
 243 HG00099.hp2
HG00140.hp1
HG00323.hp2
others(240): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-5972_-101-594
others(30): Show 
c.-101-5972_-101-5947delCACACACACACACACACACACACACA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518758
chr2:46518811 T
T
 TGTGTG
TGTGTG
 4 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
others(1): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0286
 4 HG00597.hp2
HG00639.hp1
HG00639.hp2
others(1): Show 
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG02717.hp1
 intron_variant MODIFIER c.-101-6000_-101-599
others(9): Show 
c.-101-6000_-101-5999insCACAC
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46518811
chr2:46519096 G
G
 C
C
 1 a0001c0001t0002g0295
a0001c0001t0002g0295
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-101-6284C>G
c.-101-6284C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519096
chr2:46519117 G
G
 A
A
 59 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(56): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0004g0109
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0108
a0001c0001t0007g0110
 62 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(59): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19057.hp1
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-6305C>T
c.-101-6305C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519117
chr2:46519166 G
G
 A
A
 15 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
others(12): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0180
a0001c0001t0005g0181
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 16 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(13): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03139.hp1
HG03486.hp2
HG06807.hp2
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-6354C>T
c.-101-6354C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519166
chr2:46519176 C
C
 T
T
 1 a0001c0001t0001g0242
a0001c0001t0001g0242
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.-101-6364G>A
c.-101-6364G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519176
chr2:46519273 C
C
 G
G
 5 a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
others(2): Show 
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0007g0014
a0001c0001t0007g0196
 7 HG01081.hp1
HG02109.hp1
HG02145.hp2
others(4): Show 
HG01081.hp1
HG02109.hp1
HG02145.hp2
HG02717.hp1
HG02723.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.-101-6461G>C
c.-101-6461G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519273
chr2:46519308 T
T
 C
C
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-6496A>G
c.-101-6496A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519308
chr2:46519529 C
C
 T
T
 4 a0001c0001t0002g0206
a0001c0001t0002g0244
a0001c0001t0002g0245
others(1): Show 
a0001c0001t0002g0206
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0269
 4 HG02056.hp1
NA18975.hp2
NA19059.hp1
others(1): Show 
HG02056.hp1
NA18975.hp2
NA19059.hp1
NA19089.hp1
 intron_variant MODIFIER c.-101-6717G>A
c.-101-6717G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519529
chr2:46519536 G
G
 A
A
 65 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0023
others(62): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0004g0109
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
 75 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(72): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02965.hp1
HG03195.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18982.hp1
NA18987.hp2
NA18990.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19057.hp1
NA19068.hp1
NA19077.hp2
NA19083.hp1
NA19084.hp2
NA19088.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-101-6724C>T
c.-101-6724C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519536
chr2:46519543 A
A
 G
G
 274 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(271): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0109
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0007g0196
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 368 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(365): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-6731T>C
c.-101-6731T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519543
chr2:46519606 G
G
 A
A
 168 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(165): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 255 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(252): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-6794C>T
c.-101-6794C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519606
chr2:46519628 C
C
 T
T
 2 a0001c0001t0005g0029
a0001c0001t0005g0181
a0001c0001t0005g0029
a0001c0001t0005g0181
 3 HG01109.hp1
HG01891.hp2
HG02559.hp1
HG01109.hp1
HG01891.hp2
HG02559.hp1
 intron_variant MODIFIER c.-101-6816G>A
c.-101-6816G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519628
chr2:46519816 C
C
 T
T
 1 a0001c0001t0004g0123
a0001c0001t0004g0123
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.-101-7004G>A
c.-101-7004G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519816
chr2:46519823 C
C
 T
T
 9 a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
others(6): Show 
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 10 HG01109.hp2
HG01175.hp2
HG02109.hp2
others(7): Show 
HG01109.hp2
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-7011G>A
c.-101-7011G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519823
chr2:46519824 A
A
 G
G
 75 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(72): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0001t0004g0109
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0196
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 81 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(78): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18948.hp1
NA18952.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19077.hp2
NA19083.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-7012T>C
c.-101-7012T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519824
chr2:46519837 T
T
 C
C
 1 a0001c0001t0002g0284
a0001c0001t0002g0284
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-101-7025A>G
c.-101-7025A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46519837
chr2:46520016 T
T
 A
A
 1 a0001c0001t0003g0130
a0001c0001t0003g0130
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-101-7204A>T
c.-101-7204A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520016
chr2:46520017 G
G
 T
T
 1 a0001c0001t0003g0130
a0001c0001t0003g0130
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-101-7205C>A
c.-101-7205C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520017
chr2:46520054 G
G
 C
C
 4 a0001c0001t0002g0285
a0001c0001t0005g0137
a0001c0001t0005g0140
others(1): Show 
a0001c0001t0002g0285
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
 4 HG02572.hp2
HG03130.hp1
HG03486.hp1
others(1): Show 
HG02572.hp2
HG03130.hp1
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.-101-7242C>G
c.-101-7242C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520054
chr2:46520241 G
G
 A
A
 2 a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0082
a0001c0001t0001g0083
 2 HG01934.hp2
HG02148.hp2
HG01934.hp2
HG02148.hp2
 intron_variant MODIFIER c.-101-7429C>T
c.-101-7429C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520241
chr2:46520337 A
A
 C
C
 1 a0001c0001t0001g0226
a0001c0001t0001g0226
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.-101-7525T>G
c.-101-7525T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520337
chr2:46520379 C
C
 T
T
 1 a0001c0001t0003g0303
a0001c0001t0003g0303
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.-101-7567G>A
c.-101-7567G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520379
chr2:46520483 G
G
 A
A
 1 a0001c0002t0003g0305
a0001c0002t0003g0305
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-101-7671C>T
c.-101-7671C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520483
chr2:46520518 G
G
 A
A
 2 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0194
a0001c0001t0001g0224
 2 HG02602.hp1
HG03490.hp1
HG02602.hp1
HG03490.hp1
 intron_variant MODIFIER c.-101-7706C>T
c.-101-7706C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520518
chr2:46520518 G
G
 C
C
 170 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(167): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 257 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(254): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-7706C>G
c.-101-7706C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520518
chr2:46520634 C
C
 T
T
 2 a0001c0001t0003g0150
a0001c0001t0003g0173
a0001c0001t0003g0150
a0001c0001t0003g0173
 2 NA18978.hp1
NA19010.hp2
NA18978.hp1
NA19010.hp2
 intron_variant MODIFIER c.-101-7822G>A
c.-101-7822G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520634
chr2:46520728 A
A
 G
G
 169 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(166): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0147
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 256 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(253): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-7916T>C
c.-101-7916T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520728
chr2:46520840 G
G
 A
A
 4 a0001c0001t0001g0265
a0001c0001t0005g0126
a0001c0001t0005g0128
others(1): Show 
a0001c0001t0001g0265
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
 4 HG02896.hp1
HG02922.hp2
HG02965.hp2
others(1): Show 
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG03486.hp2
 intron_variant MODIFIER c.-101-8028C>T
c.-101-8028C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520840
chr2:46520927 A
A
 G
G
 18 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
others(15): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0180
a0001c0001t0005g0181
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 19 HG01109.hp1
HG01884.hp2
HG01891.hp2
others(16): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03139.hp1
HG03486.hp2
HG06807.hp2
NA18906.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-8115T>C
c.-101-8115T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520927
chr2:46520977 A
A
 G
G
 11 a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0002t0002g0030
others(8): Show 
a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 12 HG01109.hp2
HG01175.hp2
HG02109.hp2
others(9): Show 
HG01109.hp2
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
NA19043.hp1
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-8165T>C
c.-101-8165T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46520977
chr2:46521103 G
G
 A
A
 3 a0001c0001t0005g0095
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0095
a0001c0001t0005g0136
a0001c0001t0005g0160
 3 HG02257.hp1
HG03139.hp1
HG06807.hp2
HG02257.hp1
HG03139.hp1
HG06807.hp2
 intron_variant MODIFIER c.-101-8291C>T
c.-101-8291C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521103
chr2:46521138 T
T
 C
C
 7 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0240
others(4): Show 
a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
 7 HG02602.hp1
HG03490.hp1
NA18942.hp1
others(4): Show 
HG02602.hp1
HG03490.hp1
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA19006.hp1
NA19068.hp2
 intron_variant MODIFIER c.-101-8326A>G
c.-101-8326A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521138
chr2:46521256 T
T
 C
C
 199 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(196): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 287 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(284): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-8444A>G
c.-101-8444A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521256
chr2:46521265 G
G
 A
A
 4 a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
others(1): Show 
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0005g0125
 4 HG00323.hp1
HG01168.hp2
HG02683.hp2
others(1): Show 
HG00323.hp1
HG01168.hp2
HG02683.hp2
HG02738.hp2
 intron_variant MODIFIER c.-101-8453C>T
c.-101-8453C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521265
chr2:46521344 T
T
 G
G
 267 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(264): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0109
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 359 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(356): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-8532A>C
c.-101-8532A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521344
chr2:46521377 G
G
 T
T
 1 a0001c0001t0002g0271
a0001c0001t0002g0271
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.-101-8565C>A
c.-101-8565C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521377
chr2:46521435 A
A
 C
C
 179 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(176): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 266 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(263): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-8623T>G
c.-101-8623T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521435
chr2:46521461 G
G
 T
T
 6 a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
others(3): Show 
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 6 HG01175.hp2
HG02109.hp2
HG02145.hp1
others(3): Show 
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-8649C>A
c.-101-8649C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521461
chr2:46521616 G
G
 C
C
 3 a0001c0001t0001g0006
a0001c0001t0001g0042
a0001c0001t0001g0232
a0001c0001t0001g0006
a0001c0001t0001g0042
a0001c0001t0001g0232
 9 HG00408.hp2
HG02083.hp1
NA18941.hp1
others(6): Show 
HG00408.hp2
HG02083.hp1
NA18941.hp1
NA18947.hp1
NA18950.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18978.hp2
 intron_variant MODIFIER c.-101-8804C>G
c.-101-8804C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521616
chr2:46521617 T
T
 C
C
 1 a0001c0001t0002g0015
a0001c0001t0002g0015
 3 HG01346.hp2
HG01515.hp2
HG01517.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp1
 intron_variant MODIFIER c.-101-8805A>G
c.-101-8805A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521617
chr2:46521687 T
T
 C
C
 5 a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
others(2): Show 
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0295
a0001c0001t0003g0175
 5 HG02818.hp1
HG02886.hp1
HG02976.hp2
others(2): Show 
HG02818.hp1
HG02886.hp1
HG02976.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-8875A>G
c.-101-8875A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521687
chr2:46521838 A
A
 G
G
 202 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(199): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 291 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(288): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-9026T>C
c.-101-9026T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521838
chr2:46521941 C
C
 G
G
 1 a0001c0001t0003g0097
a0001c0001t0003g0097
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.-101-9129G>C
c.-101-9129G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521941
chr2:46521946 TC
TC
 T
T
 172 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(169): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 259 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(256): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-9135delG
c.-101-9135delG
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46521946
chr2:46522010 T
T
 G
G
 3 a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
 3 HG02572.hp2
HG03130.hp1
HG03486.hp1
HG02572.hp2
HG03130.hp1
HG03486.hp1
 intron_variant MODIFIER c.-101-9198A>C
c.-101-9198A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522010
chr2:46522032 T
T
 C
C
 2 a0001c0001t0003g0141
a0001c0001t0003g0145
a0001c0001t0003g0141
a0001c0001t0003g0145
 2 HG03654.hp2
HG03834.hp1
HG03654.hp2
HG03834.hp1
 intron_variant MODIFIER c.-101-9220A>G
c.-101-9220A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522032
chr2:46522049 T
T
 C
C
 171 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(168): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 258 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(255): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-9237A>G
c.-101-9237A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522049
chr2:46522064 G
G
 A
A
 6 a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
others(3): Show 
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 6 HG01175.hp2
HG02109.hp2
HG02145.hp1
others(3): Show 
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-9252C>T
c.-101-9252C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522064
chr2:46522107 G
G
 A
A
 1 a0001c0001t0001g0250
a0001c0001t0001g0250
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.-101-9295C>T
c.-101-9295C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522107
chr2:46522118 T
T
 G
G
 3 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
 3 HG02886.hp1
HG02976.hp2
HG03209.hp2
HG02886.hp1
HG02976.hp2
HG03209.hp2
 intron_variant MODIFIER c.-101-9306A>C
c.-101-9306A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522118
chr2:46522128 T
T
 C
C
 7 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0240
others(4): Show 
a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
 7 HG02602.hp1
HG03490.hp1
NA18942.hp1
others(4): Show 
HG02602.hp1
HG03490.hp1
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA19006.hp1
NA19068.hp2
 intron_variant MODIFIER c.-101-9316A>G
c.-101-9316A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522128
chr2:46522270 G
G
 C
C
 208 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(205): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 297 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(294): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-9458C>G
c.-101-9458C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522270
chr2:46522284 C
C
 CA
CA
 198 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(195): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 287 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(284): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-9473dupT
c.-101-9473dupT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522284
chr2:46522470 C
C
 CT
CT
 202 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(199): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 291 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(288): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-9659dupA
c.-101-9659dupA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522470
chr2:46522577 C
C
 A
A
 5 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0002g0285
others(2): Show 
a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0002g0285
a0001c0001t0005g0137
a0001c0001t0005g0140
 5 HG02602.hp1
HG03130.hp1
HG03486.hp1
others(2): Show 
HG02602.hp1
HG03130.hp1
HG03486.hp1
HG03490.hp1
NA19030.hp2
 intron_variant MODIFIER c.-101-9765G>T
c.-101-9765G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522577
chr2:46522661 T
T
 A
A
 2 a0001c0001t0001g0194
a0001c0001t0001g0224
a0001c0001t0001g0194
a0001c0001t0001g0224
 2 HG02602.hp1
HG03490.hp1
HG02602.hp1
HG03490.hp1
 intron_variant MODIFIER c.-101-9849A>T
c.-101-9849A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522661
chr2:46522926 T
T
 C
C
 24 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
others(21): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 26 HG01109.hp1
HG01109.hp2
HG01884.hp2
others(23): Show 
HG01109.hp1
HG01109.hp2
HG01884.hp2
HG01891.hp2
HG02257.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03486.hp2
HG06807.hp2
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-10114A>G
c.-101-10114A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522926
chr2:46522930 G
G
 C
C
 267 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(264): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0109
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 359 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(356): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-10118C>G
c.-101-10118C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46522930
chr2:46523004 T
T
 C
C
 6 a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
others(3): Show 
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0175
 6 HG02818.hp1
HG02886.hp1
HG02976.hp2
others(3): Show 
HG02818.hp1
HG02886.hp1
HG02976.hp2
HG03209.hp2
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-10192A>G
c.-101-10192A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523004
chr2:46523055 T
T
 C
C
 3 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
 3 HG02886.hp1
HG02976.hp2
HG03209.hp2
HG02886.hp1
HG02976.hp2
HG03209.hp2
 intron_variant MODIFIER c.-101-10243A>G
c.-101-10243A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523055
chr2:46523134 A
A
 G
G
 1 a0001c0001t0002g0284
a0001c0001t0002g0284
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-101-10322T>C
c.-101-10322T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523134
chr2:46523222 A
A
 G
G
 4 a0001c0001t0002g0285
a0001c0001t0005g0137
a0001c0001t0005g0140
others(1): Show 
a0001c0001t0002g0285
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
 4 HG02572.hp2
HG03130.hp1
HG03486.hp1
others(1): Show 
HG02572.hp2
HG03130.hp1
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.-101-10410T>C
c.-101-10410T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523222
chr2:46523260 T
T
 C
C
 9 a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0042
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0042
a0001c0001t0001g0197
a0001c0001t0001g0232
a0001c0001t0001g0300
a0001c0001t0002g0037
a0001c0001t0002g0193
a0001c0001t0002g0262
 19 HG00408.hp2
HG00609.hp1
HG01934.hp1
others(16): Show 
HG00408.hp2
HG00609.hp1
HG01934.hp1
HG02027.hp1
HG02074.hp1
HG02083.hp1
HG02155.hp1
NA18939.hp1
NA18941.hp1
NA18947.hp1
NA18950.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18972.hp1
NA18978.hp2
NA18979.hp1
NA18991.hp2
NA19006.hp2
 intron_variant MODIFIER c.-101-10448A>G
c.-101-10448A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523260
chr2:46523267 T
T
 C
C
 2 a0001c0001t0003g0142
a0001c0001t0003g0148
a0001c0001t0003g0142
a0001c0001t0003g0148
 2 HG03669.hp1
HG04184.hp2
HG03669.hp1
HG04184.hp2
 intron_variant MODIFIER c.-101-10455A>G
c.-101-10455A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523267
chr2:46523305 T
T
 C
C
 24 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
others(21): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 26 HG01109.hp1
HG01109.hp2
HG01884.hp2
others(23): Show 
HG01109.hp1
HG01109.hp2
HG01884.hp2
HG01891.hp2
HG02257.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03486.hp2
HG06807.hp2
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-10493A>G
c.-101-10493A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523305
chr2:46523415 A
A
 C
C
 165 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(162): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0288
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0004c0007t0002g0246
a0005c0009t0001g0218
 252 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(249): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-10603T>G
c.-101-10603T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523415
chr2:46523429 G
G
 A
A
 6 a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
others(3): Show 
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 6 HG01175.hp2
HG02109.hp2
HG02145.hp1
others(3): Show 
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-10617C>T
c.-101-10617C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523429
chr2:46523445 T
T
 C
C
 2 a0001c0001t0002g0295
a0001c0001t0003g0175
a0001c0001t0002g0295
a0001c0001t0003g0175
 2 HG02818.hp1
NA19043.hp2
HG02818.hp1
NA19043.hp2
 intron_variant MODIFIER c.-101-10633A>G
c.-101-10633A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523445
chr2:46523548 A
A
 G
G
 1 a0001c0001t0002g0247
a0001c0001t0002g0247
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.-101-10736T>C
c.-101-10736T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523548
chr2:46523554 G
G
 A
A
 175 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(172): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0132
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0163
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 262 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(259): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-10742C>T
c.-101-10742C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523554
chr2:46523599 T
T
 C
C
 26 a0001c0001t0001g0084
a0001c0001t0001g0210
a0001c0001t0001g0211
others(23): Show 
a0001c0001t0001g0084
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0265
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0131
a0001c0001t0003g0175
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0136
a0001c0001t0005g0160
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0003c0004t0005g0133
a0003c0004t0005g0143
a0006c0006t0007g0296
 28 HG01109.hp1
HG01109.hp2
HG01884.hp2
others(25): Show 
HG01109.hp1
HG01109.hp2
HG01884.hp2
HG01891.hp2
HG01978.hp1
HG02257.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03486.hp2
HG06807.hp2
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-10787A>G
c.-101-10787A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523599
chr2:46523602 G
G
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.-101-10790C>G
c.-101-10790C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523602
chr2:46523659 T
T
 C
C
 1 a0001c0001t0002g0258
a0001c0001t0002g0258
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.-101-10847A>G
c.-101-10847A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523659
chr2:46523726 T
T
 G
G
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-10914A>C
c.-101-10914A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46523726
chr2:46524048 AAAGGAAT
others(112): Show 
AAAGGAATACTTGTGTTTTTGCACATTGATTTTGTATCCTGAGATTTTGC
TGAAGTTGCTTATCAATTCGACAAGTTTTTGGGCTGAGATGATGGGGTTT
TGTAAATATAAAATCATGTC
 A
A
 1 a0001c0001t0003g0201
a0001c0001t0003g0201
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-101-11355_-101-11
others(6): Show 
c.-101-11355_-101-11237del
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524048
chr2:46524070 A
A
 G
G
 3 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
 3 HG02886.hp1
HG02976.hp2
HG03209.hp2
HG02886.hp1
HG02976.hp2
HG03209.hp2
 intron_variant MODIFIER c.-101-11258T>C
c.-101-11258T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524070
chr2:46524117 G
G
 A
A
 1 a0001c0001t0003g0153
a0001c0001t0003g0153
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-11305C>T
c.-101-11305C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524117
chr2:46524259 A
A
 T
T
 1 a0001c0001t0001g0236
a0001c0001t0001g0236
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.-101-11447T>A
c.-101-11447T>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524259
chr2:46524277 T
T
 C
C
 2 a0001c0001t0002g0036
a0001c0001t0002g0260
a0001c0001t0002g0036
a0001c0001t0002g0260
 3 HG00741.hp1
HG02258.hp2
HG03139.hp2
HG00741.hp1
HG02258.hp2
HG03139.hp2
 intron_variant MODIFIER c.-101-11465A>G
c.-101-11465A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524277
chr2:46524406 G
G
 A
A
 244 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(241): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0109
a0001c0001t0004g0112
a0001c0001t0004g0123
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0005c0009t0001g0218
a0006c0006t0007g0296
 335 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(332): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+11407C>T
c.-102+11407C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524406
chr2:46524438 A
A
 C
C
 56 a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
others(53): Show 
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0222
a0001c0001t0001g0252
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0002g0019
a0001c0001t0002g0037
a0001c0001t0002g0063
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0004g0109
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0053
a0001c0001t0006g0056
a0001c0001t0006g0059
a0001c0001t0006g0086
a0001c0001t0007g0108
a0001c0001t0007g0110
 60 HG00280.hp1
HG00323.hp1
HG00597.hp2
others(57): Show 
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03710.hp1
HG03834.hp2
HG04228.hp1
NA18943.hp2
NA18944.hp2
NA18952.hp2
NA18966.hp1
NA18972.hp1
NA19005.hp1
NA19057.hp1
NA19060.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+11375T>G
c.-102+11375T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524438
chr2:46524559 A
A
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-102+11254T>C
c.-102+11254T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524559
chr2:46524583 A
A
 C
C
 7 a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
others(4): Show 
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0285
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
 7 HG02145.hp2
HG02572.hp2
HG02717.hp1
others(4): Show 
HG02145.hp2
HG02572.hp2
HG02717.hp1
HG02965.hp1
HG03130.hp1
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.-102+11230T>G
c.-102+11230T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524583
chr2:46524611 C
C
 G
G
 260 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(257): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0004g0109
a0001c0001t0004g0112
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0007g0120
a0001c0001t0007g0196
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0212
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 353 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(350): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+11202G>C
c.-102+11202G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524611
chr2:46524647 G
G
 A
A
 2 a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0301
a0001c0002t0003g0302
 2 HG02145.hp1
NA21309.hp1
HG02145.hp1
NA21309.hp1
 intron_variant MODIFIER c.-102+11166C>T
c.-102+11166C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524647
chr2:46524685 C
C
 T
T
 1 a0001c0001t0001g0237
a0001c0001t0001g0237
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.-102+11128G>A
c.-102+11128G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524685
chr2:46524723 T
T
 A
A
 2 a0001c0001t0001g0294
a0001c0001t0003g0156
a0001c0001t0001g0294
a0001c0001t0003g0156
 2 HG02965.hp1
HG03209.hp1
HG02965.hp1
HG03209.hp1
 intron_variant MODIFIER c.-102+11090A>T
c.-102+11090A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524723
chr2:46524750 G
G
 A
A
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-102+11063C>T
c.-102+11063C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524750
chr2:46524751 G
G
 T
T
 1 a0001c0001t0003g0148
a0001c0001t0003g0148
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.-102+11062C>A
c.-102+11062C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524751
chr2:46524834 G
G
 C
C
 6 a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0003g0303
others(3): Show 
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0003g0303
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
 6 HG02572.hp2
HG03130.hp1
HG03453.hp2
others(3): Show 
HG02572.hp2
HG03130.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.-102+10979C>G
c.-102+10979C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524834
chr2:46524927 G
G
 C
C
 1 a0001c0002t0003g0305
a0001c0002t0003g0305
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-102+10886C>G
c.-102+10886C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524927
chr2:46524962 A
A
 G
G
 162 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(159): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0041
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0134
a0001c0001t0003g0144
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0201
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0005g0095
a0001c0001t0005g0128
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0160
a0001c0001t0006g0055
a0001c0001t0007g0014
a0001c0001t0007g0196
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 239 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(236): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+10851T>C
c.-102+10851T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46524962
chr2:46525039 C
C
 G
G
 5 a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
others(2): Show 
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
 5 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(2): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA19006.hp1
NA19068.hp2
 intron_variant MODIFIER c.-102+10774G>C
c.-102+10774G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525039
chr2:46525065 G
G
 T
T
 1 a0001c0001t0001g0280
a0001c0001t0001g0280
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.-102+10748C>A
c.-102+10748C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525065
chr2:46525069 C
C
 T
T
 1 a0001c0001t0003g0026
a0001c0001t0003g0026
 2 HG03491.hp1
HG03492.hp2
HG03491.hp1
HG03492.hp2
 intron_variant MODIFIER c.-102+10744G>A
c.-102+10744G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525069
chr2:46525139 C
C
 A
A
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.-102+10674G>T
c.-102+10674G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525139
chr2:46525153 G
G
 A
A
 5 a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
others(2): Show 
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
 5 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(2): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA19006.hp1
NA19068.hp2
 intron_variant MODIFIER c.-102+10660C>T
c.-102+10660C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525153
chr2:46525207 G
G
 C
C
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 NA18981.hp2
NA18981.hp2
 intron_variant MODIFIER c.-102+10606C>G
c.-102+10606C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525207
chr2:46525270 C
C
 T
T
 56 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(53): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0002g0093
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
 61 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(58): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03239.hp2
HG03710.hp1
HG04228.hp1
NA18942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+10543G>A
c.-102+10543G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525270
chr2:46525274 A
A
 C
C
 1 a0001c0001t0002g0251
a0001c0001t0002g0251
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.-102+10539T>G
c.-102+10539T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525274
chr2:46525278 C
C
 T
T
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+10535G>A
c.-102+10535G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525278
chr2:46525389 A
A
 G
G
 2 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0001g0287
a0001c0001t0002g0288
 2 HG02055.hp2
NA20129.hp2
HG02055.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+10424T>C
c.-102+10424T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525389
chr2:46525391 G
G
 A
A
 2 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0001g0287
a0001c0001t0002g0288
 2 HG02055.hp2
NA20129.hp2
HG02055.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+10422C>T
c.-102+10422C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525391
chr2:46525414 A
A
 G
G
 1 a0001c0001t0003g0146
a0001c0001t0003g0146
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.-102+10399T>C
c.-102+10399T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525414
chr2:46525461 C
C
 CAAAAA
CAAAAA
 33 a0001c0001t0001g0020
a0001c0001t0001g0045
a0001c0001t0001g0047
others(30): Show 
a0001c0001t0001g0020
a0001c0001t0001g0045
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0275
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0054
a0001c0001t0006g0059
a0001c0001t0006g0086
a0001c0001t0006g0195
 35 HG00639.hp1
HG00639.hp2
HG00738.hp1
others(32): Show 
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01168.hp2
HG01256.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02976.hp2
HG03209.hp2
HG03239.hp2
NA18945.hp2
NA18948.hp1
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA19003.hp1
NA19005.hp1
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+10347_-102+10
others(11): Show 
c.-102+10347_-102+10351dupTTTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525461
chr2:46525461 C
C
 CAAAAAA
CAAAAAA
 21 a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0046
others(18): Show 
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0046
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0099
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0290
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0060
 23 HG00280.hp1
HG00597.hp2
HG01106.hp1
others(20): Show 
HG00280.hp1
HG00597.hp2
HG01106.hp1
HG01167.hp2
HG01169.hp2
HG01346.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01978.hp1
HG02148.hp2
HG02155.hp2
HG02738.hp2
HG02886.hp1
HG03710.hp1
HG04228.hp1
NA18942.hp2
NA18951.hp1
NA18952.hp1
NA18991.hp1
NA18998.hp1
NA19011.hp1
NA19054.hp2
 intron_variant MODIFIER c.-102+10346_-102+10
others(12): Show 
c.-102+10346_-102+10351dupTTTTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525461
chr2:46525461 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-102+10342_-102+10
others(16): Show 
c.-102+10342_-102+10351dupTTTTTTTTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525461
chr2:46525464 AAAAAAAA
others(6): Show 
AAAAAAAAAAAAAG
 A
A
 1 a0001c0001t0007g0120
a0001c0001t0007g0120
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.-102+10336_-102+10
others(19): Show 
c.-102+10336_-102+10348delCTTTTTTTTTTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525464
chr2:46525471 AAAAAAG
AAAAAAG
 A
A
 11 a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
others(8): Show 
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0008t0002g0292
 11 HG01884.hp1
HG02145.hp2
HG02280.hp1
others(8): Show 
HG01884.hp1
HG02145.hp2
HG02280.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02897.hp1
HG02965.hp1
HG03540.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-102+10336_-102+10
others(12): Show 
c.-102+10336_-102+10341delCTTTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525471
chr2:46525476 A
A
 AAG
AAG
 9 a0001c0001t0001g0032
a0001c0001t0001g0265
a0001c0001t0002g0011
others(6): Show 
a0001c0001t0001g0032
a0001c0001t0001g0265
a0001c0001t0002g0011
a0001c0001t0002g0016
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0203
a0001c0001t0002g0248
a0001c0001t0002g0261
 17 HG00544.hp1
HG00597.hp1
HG01891.hp1
others(14): Show 
HG00544.hp1
HG00597.hp1
HG01891.hp1
HG02055.hp1
HG02257.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02922.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG04184.hp1
HG04199.hp2
 intron_variant MODIFIER c.-102+10336_-102+10
others(8): Show 
c.-102+10336_-102+10337insCT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525476
chr2:46525476 A
A
 G
G
 1 a0001c0001t0001g0281
a0001c0001t0001g0281
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.-102+10337T>C
c.-102+10337T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525476
chr2:46525477 G
G
 A
A
 70 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(67): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0032
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0194
a0001c0001t0001g0265
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0281
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0011
a0001c0001t0002g0016
a0001c0001t0002g0035
a0001c0001t0002g0038
a0001c0001t0002g0093
a0001c0001t0002g0203
a0001c0001t0002g0248
a0001c0001t0002g0261
a0001c0001t0002g0289
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0006c0006t0007g0296
 82 HG00280.hp1
HG00544.hp1
HG00597.hp1
others(79): Show 
HG00280.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01891.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03579.hp1
HG03710.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+10336C>T
c.-102+10336C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525477
chr2:46525477 G
G
 GA
GA
 113 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(110): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0283
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0063
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0295
a0001c0001t0003g0041
a0001c0001t0003g0144
a0001c0001t0003g0166
a0001c0001t0003g0297
a0001c0001t0004g0107
a0001c0001t0005g0128
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0004c0007t0002g0246
a0005c0009t0001g0218
 179 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(176): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+10335dupT
c.-102+10335dupT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525477
chr2:46525655 A
A
 C
C
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-102+10158T>G
c.-102+10158T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525655
chr2:46525656 T
T
 C
C
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-102+10157A>G
c.-102+10157A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525656
chr2:46525737 G
G
 T
T
 6 a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
others(3): Show 
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0282
 6 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(3): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
NA19006.hp1
NA19068.hp2
 intron_variant MODIFIER c.-102+10076C>A
c.-102+10076C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525737
chr2:46525899 C
C
 CAA
CAA
 8 a0001c0001t0001g0194
a0001c0001t0002g0271
a0001c0001t0002g0272
others(5): Show 
a0001c0001t0001g0194
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0003g0041
a0001c0001t0003g0297
 9 HG00323.hp2
HG00735.hp2
HG01257.hp2
others(6): Show 
HG00323.hp2
HG00735.hp2
HG01257.hp2
HG01261.hp1
HG01361.hp2
HG02300.hp1
HG03239.hp1
HG03490.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+9912_-102+991
others(6): Show 
c.-102+9912_-102+9913dupTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525899
chr2:46525981 A
A
 G
G
 2 a0001c0001t0001g0265
a0001c0001t0002g0016
a0001c0001t0001g0265
a0001c0001t0002g0016
 4 HG01891.hp1
HG02257.hp2
HG02922.hp2
others(1): Show 
HG01891.hp1
HG02257.hp2
HG02922.hp2
HG03579.hp1
 intron_variant MODIFIER c.-102+9832T>C
c.-102+9832T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46525981
chr2:46526012 G
G
 A
A
 9 a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
others(6): Show 
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0002g0282
a0001c0001t0002g0288
a0001c0001t0002g0295
 9 HG02055.hp2
HG02818.hp1
NA18942.hp1
others(6): Show 
HG02055.hp2
HG02818.hp1
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
NA19006.hp1
NA19068.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+9801C>T
c.-102+9801C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526012
chr2:46526138 G
G
 A
A
 6 a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
others(3): Show 
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0002g0282
a0001c0001t0002g0288
 6 HG02055.hp2
NA18942.hp1
NA18945.hp1
others(3): Show 
HG02055.hp2
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+9675C>T
c.-102+9675C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526138
chr2:46526172 G
G
 C
C
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-102+9641C>G
c.-102+9641C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526172
chr2:46526175 G
G
 A
A
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-102+9638C>T
c.-102+9638C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526175
chr2:46526422 A
A
 G
G
 2 a0001c0001t0003g0141
a0001c0001t0003g0145
a0001c0001t0003g0141
a0001c0001t0003g0145
 2 HG03654.hp2
HG03834.hp1
HG03654.hp2
HG03834.hp1
 intron_variant MODIFIER c.-102+9391T>C
c.-102+9391T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526422
chr2:46526466 A
A
 G
G
 1 a0001c0001t0005g0140
a0001c0001t0005g0140
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+9347T>C
c.-102+9347T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526466
chr2:46526487 A
A
 G
G
 3 a0001c0001t0003g0098
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0098
a0001c0001t0003g0182
a0001c0001t0003g0183
 3 HG01884.hp1
NA18522.hp2
NA19030.hp1
HG01884.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-102+9326T>C
c.-102+9326T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526487
chr2:46526511 A
A
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-102+9302T>C
c.-102+9302T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526511
chr2:46526525 A
A
 C
C
 1 a0001c0001t0002g0190
a0001c0001t0002g0190
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.-102+9288T>G
c.-102+9288T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526525
chr2:46526632 T
T
 C
C
 3 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
 3 HG02886.hp1
HG02976.hp2
HG03209.hp2
HG02886.hp1
HG02976.hp2
HG03209.hp2
 intron_variant MODIFIER c.-102+9181A>G
c.-102+9181A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526632
chr2:46526769 A
A
 G
G
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-102+9044T>C
c.-102+9044T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526769
chr2:46526896 A
A
 G
G
 1 a0001c0001t0010g0170
a0001c0001t0010g0170
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-102+8917T>C
c.-102+8917T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46526896
chr2:46527253 A
A
 G
G
 2 a0001c0001t0007g0014
a0001c0001t0007g0196
a0001c0001t0007g0014
a0001c0001t0007g0196
 4 HG01081.hp1
HG02109.hp1
HG02723.hp2
others(1): Show 
HG01081.hp1
HG02109.hp1
HG02723.hp2
HG03195.hp2
 intron_variant MODIFIER c.-102+8560T>C
c.-102+8560T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527253
chr2:46527314 C
C
 T
T
 1 a0001c0001t0002g0221
a0001c0001t0002g0221
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.-102+8499G>A
c.-102+8499G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527314
chr2:46527322 C
C
 T
T
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-102+8491G>A
c.-102+8491G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527322
chr2:46527363 A
A
 G
G
 2 a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0301
a0001c0002t0003g0302
 2 HG02145.hp1
NA21309.hp1
HG02145.hp1
NA21309.hp1
 intron_variant MODIFIER c.-102+8450T>C
c.-102+8450T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527363
chr2:46527424 T
T
 C
C
 2 a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0179
a0001c0001t0003g0185
 2 HG02630.hp2
HG02897.hp1
HG02630.hp2
HG02897.hp1
 intron_variant MODIFIER c.-102+8389A>G
c.-102+8389A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527424
chr2:46527511 G
G
 A
A
 2 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0001g0287
a0001c0001t0002g0288
 2 HG02055.hp2
NA20129.hp2
HG02055.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+8302C>T
c.-102+8302C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527511
chr2:46527517 G
G
 A
A
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-102+8296C>T
c.-102+8296C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527517
chr2:46527533 T
T
 G
G
 1 a0001c0001t0001g0085
a0001c0001t0001g0085
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-102+8280A>C
c.-102+8280A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527533
chr2:46527563 C
C
 T
T
 4 a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
others(1): Show 
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0282
 4 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(1): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
 intron_variant MODIFIER c.-102+8250G>A
c.-102+8250G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527563
chr2:46527657 C
C
 T
T
 2 a0001c0001t0003g0139
a0001c0001t0003g0177
a0001c0001t0003g0139
a0001c0001t0003g0177
 2 HG03688.hp2
NA20905.hp2
HG03688.hp2
NA20905.hp2
 intron_variant MODIFIER c.-102+8156G>A
c.-102+8156G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527657
chr2:46527674 G
G
 C
C
 1 a0001c0001t0002g0295
a0001c0001t0002g0295
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-102+8139C>G
c.-102+8139C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527674
chr2:46527808 T
T
 C
C
 3 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0003g0127
a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0003g0127
 3 HG02055.hp2
HG03195.hp1
NA20129.hp2
HG02055.hp2
HG03195.hp1
NA20129.hp2
 intron_variant MODIFIER c.-102+8005A>G
c.-102+8005A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527808
chr2:46527929 C
C
 G
G
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.-102+7884G>C
c.-102+7884G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46527929
chr2:46528004 C
C
 T
T
 1 a0001c0001t0001g0250
a0001c0001t0001g0250
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.-102+7809G>A
c.-102+7809G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46528004
chr2:46528017 G
G
 C
C
 1 a0001c0005t0001g0270
a0001c0005t0001g0270
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.-102+7796C>G
c.-102+7796C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46528017
chr2:46528059 G
G
 T
T
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-102+7754C>A
c.-102+7754C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46528059
chr2:46528105 G
G
 A
A
 1 a0001c0001t0002g0285
a0001c0001t0002g0285
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-102+7708C>T
c.-102+7708C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46528105
chr2:46528187 G
G
 A
A
 1 a0001c0001t0002g0203
a0001c0001t0002g0203
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-102+7626C>T
c.-102+7626C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46528187
chr2:46528787 G
G
 A
A
 1 a0001c0001t0004g0121
a0001c0001t0004g0121
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.-102+7026C>T
c.-102+7026C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46528787
chr2:46528891 A
A
 T
T
 1 a0001c0001t0002g0203
a0001c0001t0002g0203
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-102+6922T>A
c.-102+6922T>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46528891
chr2:46529121 G
G
 A
A
 6 a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
others(3): Show 
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 6 HG01175.hp2
HG02109.hp2
HG02145.hp1
others(3): Show 
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-102+6692C>T
c.-102+6692C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529121
chr2:46529128 G
G
 C
C
 1 a0001c0001t0002g0285
a0001c0001t0002g0285
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-102+6685C>G
c.-102+6685C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529128
chr2:46529292 A
A
 G
G
 3 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0003g0127
a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0003g0127
 3 HG02055.hp2
HG03195.hp1
NA20129.hp2
HG02055.hp2
HG03195.hp1
NA20129.hp2
 intron_variant MODIFIER c.-102+6521T>C
c.-102+6521T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529292
chr2:46529399 T
T
 C
C
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-102+6414A>G
c.-102+6414A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529399
chr2:46529433 C
C
 T
T
 2 a0001c0001t0002g0034
a0001c0001t0002g0247
a0001c0001t0002g0034
a0001c0001t0002g0247
 3 HG00280.hp2
HG01981.hp2
HG03704.hp2
HG00280.hp2
HG01981.hp2
HG03704.hp2
 intron_variant MODIFIER c.-102+6380G>A
c.-102+6380G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529433
chr2:46529443 T
T
 C
C
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.-102+6370A>G
c.-102+6370A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529443
chr2:46529617 A
A
 C
C
 1 a0001c0001t0005g0128
a0001c0001t0005g0128
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-102+6196T>G
c.-102+6196T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529617
chr2:46529650 G
G
 A
A
 7 a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0179
others(4): Show 
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
 7 HG01884.hp1
HG02280.hp1
HG02630.hp2
others(4): Show 
HG01884.hp1
HG02280.hp1
HG02630.hp2
HG02897.hp1
HG03540.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-102+6163C>T
c.-102+6163C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529650
chr2:46529650 G
G
 C
C
 1 a0001c0001t0001g0280
a0001c0001t0001g0280
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.-102+6163C>G
c.-102+6163C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529650
chr2:46529743 G
G
 C
C
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-102+6070C>G
c.-102+6070C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529743
chr2:46529771 G
G
 GATA
GATA
 67 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(64): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0006g0018
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
a0001c0008t0002g0292
 73 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(70): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02818.hp2
HG02897.hp1
HG02965.hp1
HG03017.hp2
HG03239.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp1
HG04228.hp1
NA18522.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+6041_-102+604
others(7): Show 
c.-102+6041_-102+6042insTAT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529771
chr2:46529774 G
G
 A
A
 70 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(67): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0003g0098
a0001c0001t0003g0138
a0001c0001t0003g0165
a0001c0001t0003g0168
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0202
a0001c0001t0006g0018
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
a0001c0008t0002g0292
 76 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(73): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02818.hp2
HG02897.hp1
HG02965.hp1
HG03017.hp2
HG03239.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp1
HG03831.hp2
HG04228.hp1
NA18522.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+6039C>T
c.-102+6039C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529774
chr2:46529774 G
G
 GATA
GATA
 3 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
 3 HG02886.hp1
HG02976.hp2
HG03209.hp2
HG02886.hp1
HG02976.hp2
HG03209.hp2
 intron_variant MODIFIER c.-102+6036_-102+603
others(7): Show 
c.-102+6036_-102+6038dupTAT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529774
chr2:46529777 A
A
 G
G
 23 a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
others(20): Show 
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0015
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0190
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0214
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0003g0174
a0001c0001t0005g0128
a0001c0001t0009g0044
 38 HG00280.hp2
HG00408.hp1
HG00597.hp1
others(35): Show 
HG00280.hp2
HG00408.hp1
HG00597.hp1
HG01074.hp1
HG01175.hp1
HG01346.hp2
HG01515.hp2
HG01517.hp1
HG01981.hp2
HG02040.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02165.hp2
HG02602.hp2
HG02965.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp2
HG04199.hp2
HG04204.hp1
NA18946.hp2
NA18951.hp2
NA18959.hp1
NA18963.hp2
NA18969.hp1
NA18975.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA19003.hp2
NA19007.hp1
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19082.hp2
NA19084.hp1
 intron_variant MODIFIER c.-102+6036T>C
c.-102+6036T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529777
chr2:46529804 C
C
 T
T
 47 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0250
others(44): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0190
a0001c0001t0002g0203
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0214
a0001c0001t0002g0247
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0003g0041
a0001c0001t0003g0297
a0001c0001t0005g0128
a0001c0001t0009g0044
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
 74 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(71): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00597.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18951.hp2
NA18959.hp1
NA18963.hp2
NA18969.hp1
NA18975.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA19003.hp2
NA19007.hp1
NA19057.hp2
NA19062.hp2
NA19064.hp1
NA19082.hp2
NA19084.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+6009G>A
c.-102+6009G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529804
chr2:46529807 T
T
 G
G
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-102+6006A>C
c.-102+6006A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529807
chr2:46529905 A
A
 G
G
 2 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0091
a0001c0001t0001g0092
 2 HG01074.hp2
HG01099.hp2
HG01074.hp2
HG01099.hp2
 intron_variant MODIFIER c.-102+5908T>C
c.-102+5908T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529905
chr2:46529980 C
C
 T
T
 1 a0001c0001t0002g0295
a0001c0001t0002g0295
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-102+5833G>A
c.-102+5833G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529980
chr2:46529981 G
G
 A
A
 2 a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0263
a0001c0001t0002g0264
 2 NA18906.hp1
NA20300.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.-102+5832C>T
c.-102+5832C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46529981
chr2:46530188 C
C
 A
A
 1 a0005c0009t0001g0218
a0005c0009t0001g0218
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.-102+5625G>T
c.-102+5625G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46530188
chr2:46530237 T
T
 C
C
 1 a0001c0001t0001g0235
a0001c0001t0001g0235
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.-102+5576A>G
c.-102+5576A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46530237
chr2:46530845 A
A
 G
G
 4 a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
others(1): Show 
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0282
 4 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(1): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
 intron_variant MODIFIER c.-102+4968T>C
c.-102+4968T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46530845
chr2:46530876 C
C
 A
A
 3 a0001c0001t0003g0138
a0001c0001t0003g0168
a0001c0001t0003g0202
a0001c0001t0003g0138
a0001c0001t0003g0168
a0001c0001t0003g0202
 3 HG00642.hp2
HG01515.hp1
HG03831.hp2
HG00642.hp2
HG01515.hp1
HG03831.hp2
 intron_variant MODIFIER c.-102+4937G>T
c.-102+4937G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46530876
chr2:46530887 C
C
 T
T
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+4926G>A
c.-102+4926G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46530887
chr2:46531028 G
G
 GT
GT
 76 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(73): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
a0001c0008t0002g0292
 82 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(79): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp1
HG04228.hp1
NA18522.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+4784dupA
c.-102+4784dupA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531028
chr2:46531143 G
G
 A
A
 3 a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0185
 3 HG02630.hp2
HG02897.hp1
HG03540.hp2
HG02630.hp2
HG02897.hp1
HG03540.hp2
 intron_variant MODIFIER c.-102+4670C>T
c.-102+4670C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531143
chr2:46531156 CA
CA
 C
C
 7 a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0179
others(4): Show 
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
 7 HG01884.hp1
HG02280.hp1
HG02630.hp2
others(4): Show 
HG01884.hp1
HG02280.hp1
HG02630.hp2
HG02897.hp1
HG03540.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.-102+4656delT
c.-102+4656delT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531156
chr2:46531206 C
C
 A
A
 1 a0001c0001t0001g0298
a0001c0001t0001g0298
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.-102+4607G>T
c.-102+4607G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531206
chr2:46531543 C
C
 G
G
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-102+4270G>C
c.-102+4270G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531543
chr2:46531578 A
A
 G
G
 76 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(73): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
a0001c0008t0002g0292
 82 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(79): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp1
HG04228.hp1
NA18522.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+4235T>C
c.-102+4235T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531578
chr2:46531607 T
T
 G
G
 76 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(73): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
a0001c0008t0002g0292
 82 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(79): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp1
HG04228.hp1
NA18522.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+4206A>C
c.-102+4206A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531607
chr2:46531695 T
T
 A
A
 4 a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
others(1): Show 
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0307
 4 HG01175.hp2
HG02145.hp1
HG02615.hp2
others(1): Show 
HG01175.hp2
HG02145.hp1
HG02615.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+4118A>T
c.-102+4118A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531695
chr2:46531965 T
T
 C
C
 76 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(73): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
a0001c0008t0002g0292
 82 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(79): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp1
HG04228.hp1
NA18522.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+3848A>G
c.-102+3848A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46531965
chr2:46532069 T
T
 G
G
 1 a0001c0001t0001g0294
a0001c0001t0001g0294
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-102+3744A>C
c.-102+3744A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532069
chr2:46532182 G
G
 A
A
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+3631C>T
c.-102+3631C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532182
chr2:46532288 T
T
 C
C
 58 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(55): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
 64 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(61): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03239.hp2
HG03710.hp1
HG04228.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+3525A>G
c.-102+3525A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532288
chr2:46532324 A
A
 AT
AT
 6 a0001c0001t0001g0004
a0001c0001t0001g0090
a0001c0001t0001g0236
others(3): Show 
a0001c0001t0001g0004
a0001c0001t0001g0090
a0001c0001t0001g0236
a0001c0001t0001g0267
a0001c0001t0002g0249
a0001c0001t0005g0136
 11 HG00642.hp1
HG01928.hp1
HG01975.hp2
others(8): Show 
HG00642.hp1
HG01928.hp1
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02148.hp1
HG02273.hp2
HG02293.hp1
HG06807.hp2
NA18993.hp2
NA19003.hp2
 intron_variant MODIFIER c.-102+3488dupA
c.-102+3488dupA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532324
chr2:46532324 AT
AT
 A
A
 81 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(78): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0194
a0001c0001t0001g0215
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0265
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0294
a0001c0001t0002g0016
a0001c0001t0002g0019
a0001c0001t0002g0038
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0282
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0008t0002g0292
a0006c0006t0007g0296
 90 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(87): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04228.hp1
NA18522.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18960.hp1
NA18981.hp1
NA18986.hp2
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19006.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19068.hp2
NA19070.hp1
NA19077.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-102+3488delA
c.-102+3488delA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532324
chr2:46532555 G
G
 A
A
 5 a0001c0001t0001g0215
a0001c0001t0001g0236
a0001c0001t0001g0237
others(2): Show 
a0001c0001t0001g0215
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0268
 5 NA18939.hp2
NA18972.hp2
NA18986.hp2
others(2): Show 
NA18939.hp2
NA18972.hp2
NA18986.hp2
NA18993.hp2
NA19085.hp2
 intron_variant MODIFIER c.-102+3258C>T
c.-102+3258C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532555
chr2:46532578 G
G
 A
A
 1 a0001c0001t0001g0239
a0001c0001t0001g0239
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.-102+3235C>T
c.-102+3235C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532578
chr2:46532700 C
C
 T
T
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-102+3113G>A
c.-102+3113G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532700
chr2:46532805 A
A
 C
C
 1 a0001c0001t0003g0134
a0001c0001t0003g0134
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-102+3008T>G
c.-102+3008T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532805
chr2:46532926 G
G
 A
A
 1 a0001c0001t0003g0097
a0001c0001t0003g0097
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.-102+2887C>T
c.-102+2887C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46532926
chr2:46533079 ATATATAT
others(7): Show 
ATATATATCTAACAT
 A
A
 77 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(74): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
a0001c0008t0002g0292
 83 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(80): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp1
HG04228.hp1
NA18522.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-102+2720_-102+273
others(18): Show 
c.-102+2720_-102+2733delATGTTAGATATATA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533079
chr2:46533124 T
T
 C
C
 198 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(195): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0041
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0201
a0001c0001t0003g0297
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0006c0006t0007g0296
 277 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(274): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+2689A>G
c.-102+2689A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533124
chr2:46533144 A
A
 G
G
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.-102+2669T>C
c.-102+2669T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533144
chr2:46533166 T
T
 C
C
 1 a0001c0001t0003g0157
a0001c0001t0003g0157
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-102+2647A>G
c.-102+2647A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533166
chr2:46533203 G
G
 GTAGA
GTAGA
 7 a0001c0001t0004g0122
a0001c0001t0004g0123
a0001c0001t0005g0125
others(4): Show 
a0001c0001t0004g0122
a0001c0001t0004g0123
a0001c0001t0005g0125
a0001c0001t0005g0160
a0001c0001t0005g0181
a0001c0001t0007g0014
a0005c0009t0001g0218
 9 HG00323.hp1
HG00544.hp2
HG01081.hp1
others(6): Show 
HG00323.hp1
HG00544.hp2
HG01081.hp1
HG01109.hp1
HG02109.hp1
HG02132.hp1
HG02809.hp1
HG03139.hp1
HG03195.hp2
 intron_variant MODIFIER c.-102+2606_-102+260
others(8): Show 
c.-102+2606_-102+2609dupTCTA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533203
chr2:46533203 GTAGA
GTAGA
 G
G
 163 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(160): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0284
a0001c0001t0002g0288
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0041
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0161
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0186
a0001c0001t0003g0201
a0001c0001t0003g0297
a0001c0001t0004g0024
a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0104
a0001c0001t0004g0109
a0001c0001t0004g0112
a0001c0001t0004g0113
a0001c0001t0004g0114
a0001c0001t0004g0124
a0001c0001t0004g0199
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0006g0086
a0001c0001t0007g0108
a0001c0001t0007g0110
a0001c0001t0007g0111
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0004c0007t0002g0246
a0006c0006t0007g0296
 244 HG00099.hp2
HG00140.hp2
HG00323.hp2
others(241): Show 
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18969.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+2606_-102+260
others(8): Show 
c.-102+2606_-102+2609delTCTA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533203
chr2:46533203 GTAGATAG
others(1): Show 
GTAGATAGA
 G
G
 24 a0001c0001t0001g0291
a0001c0001t0002g0039
a0001c0001t0002g0190
others(21): Show 
a0001c0001t0001g0291
a0001c0001t0002g0039
a0001c0001t0002g0190
a0001c0001t0002g0295
a0001c0001t0003g0025
a0001c0001t0003g0096
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0164
a0001c0001t0003g0169
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0202
a0001c0001t0003g0303
a0001c0001t0004g0107
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0180
a0001c0001t0006g0060
a0001c0002t0003g0305
a0003c0004t0005g0133
a0003c0004t0005g0143
 26 HG00642.hp2
HG00741.hp2
HG01071.hp1
others(23): Show 
HG00642.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01099.hp1
HG01192.hp2
HG01256.hp1
HG01258.hp2
HG02738.hp1
HG02818.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03130.hp1
HG03486.hp1
HG03516.hp2
HG03688.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18906.hp2
NA18952.hp1
NA18990.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-102+2602_-102+260
others(12): Show 
c.-102+2602_-102+2609delTCTATCTA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533203
chr2:46533203 GTAGATAG
others(5): Show 
GTAGATAGATAGA
 G
G
 14 a0001c0001t0001g0290
a0001c0001t0002g0289
a0001c0001t0003g0098
others(11): Show 
a0001c0001t0001g0290
a0001c0001t0002g0289
a0001c0001t0003g0098
a0001c0001t0003g0138
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0188
a0001c0001t0006g0059
 14 HG00140.hp1
HG01515.hp1
HG01884.hp1
others(11): Show 
HG00140.hp1
HG01515.hp1
HG01884.hp1
HG02040.hp1
HG02280.hp1
HG02630.hp2
HG02886.hp1
HG02897.hp1
HG03209.hp2
HG03540.hp2
HG03831.hp2
NA18522.hp2
NA18612.hp1
NA19030.hp1
 intron_variant MODIFIER c.-102+2598_-102+260
others(16): Show 
c.-102+2598_-102+2609delTCTATCTATCTA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533203
chr2:46533203 GTAGATAG
others(9): Show 
GTAGATAGATAGATAGA
 G
G
 61 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(58): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0195
a0001c0008t0002g0292
 67 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(64): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG03017.hp2
HG03239.hp2
HG03710.hp1
HG04228.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.-102+2594_-102+260
others(20): Show 
c.-102+2594_-102+2609delTCTATCTATCTATCTA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533203
chr2:46533206 G
G
 C
C
 2 a0001c0001t0001g0240
a0001c0001t0001g0280
a0001c0001t0001g0240
a0001c0001t0001g0280
 2 NA18945.hp1
NA19068.hp2
NA18945.hp1
NA19068.hp2
 intron_variant MODIFIER c.-102+2607C>G
c.-102+2607C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533206
chr2:46533210 G
G
 C
C
 4 a0001c0001t0001g0241
a0001c0001t0001g0281
a0001c0001t0001g0283
others(1): Show 
a0001c0001t0001g0241
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0282
 4 NA18942.hp1
NA18953.hp1
NA18999.hp2
others(1): Show 
NA18942.hp1
NA18953.hp1
NA18999.hp2
NA19006.hp1
 intron_variant MODIFIER c.-102+2603C>G
c.-102+2603C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533210
chr2:46533220 T
T
 C
C
 9 a0001c0001t0001g0042
a0001c0001t0001g0216
a0001c0001t0001g0219
others(6): Show 
a0001c0001t0001g0042
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0002g0011
a0001c0001t0002g0034
a0001c0001t0002g0243
a0001c0001t0002g0247
a0001c0001t0002g0248
 14 HG00280.hp2
HG01981.hp2
HG02055.hp1
others(11): Show 
HG00280.hp2
HG01981.hp2
HG02055.hp1
HG02615.hp1
HG02622.hp1
HG03453.hp1
HG03471.hp1
HG03669.hp2
HG03704.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA19083.hp2
NA19240.hp1
 intron_variant MODIFIER c.-102+2593A>G
c.-102+2593A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533220
chr2:46533224 T
T
 C
C
 100 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(97): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0003g0041
a0001c0001t0003g0166
a0001c0001t0003g0297
a0001c0001t0006g0086
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0004c0007t0002g0246
 167 HG00323.hp2
HG00408.hp1
HG00408.hp2
others(164): Show 
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18969.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+2589A>G
c.-102+2589A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533224
chr2:46533228 T
T
 C
C
 2 a0001c0001t0002g0039
a0001c0001t0002g0190
a0001c0001t0002g0039
a0001c0001t0002g0190
 3 HG01074.hp1
HG01256.hp1
HG01258.hp2
HG01074.hp1
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.-102+2585A>G
c.-102+2585A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533228
chr2:46533449 T
T
 C
C
 1 a0001c0001t0003g0201
a0001c0001t0003g0201
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-102+2364A>G
c.-102+2364A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533449
chr2:46533631 C
C
 T
T
 111 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(108): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0003g0041
a0001c0001t0003g0166
a0001c0001t0003g0297
a0001c0001t0006g0086
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0004c0007t0002g0246
 184 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(181): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+2182G>A
c.-102+2182G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46533631
chr2:46534029 T
T
 C
C
 19 a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
others(16): Show 
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0165
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0008t0002g0292
 19 HG01884.hp1
HG02055.hp2
HG02145.hp2
others(16): Show 
HG01884.hp1
HG02055.hp2
HG02145.hp2
HG02280.hp1
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp2
HG03540.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+1784A>G
c.-102+1784A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534029
chr2:46534042 G
G
 A
A
 58 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(55): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
 64 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(61): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03239.hp2
HG03710.hp1
HG04228.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+1771C>T
c.-102+1771C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534042
chr2:46534082 T
T
 A
A
 1 a0001c0001t0003g0164
a0001c0001t0003g0164
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.-102+1731A>T
c.-102+1731A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534082
chr2:46534125 T
T
 A
A
 111 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(108): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0295
a0001c0001t0003g0041
a0001c0001t0003g0297
a0001c0001t0006g0086
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0004c0007t0002g0246
 184 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(181): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+1688A>T
c.-102+1688A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534125
chr2:46534158 G
G
 A
A
 2 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0001g0287
a0001c0001t0002g0288
 2 HG02055.hp2
NA20129.hp2
HG02055.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+1655C>T
c.-102+1655C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534158
chr2:46534424 T
T
 C
C
 1 a0001c0001t0002g0266
a0001c0001t0002g0266
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.-102+1389A>G
c.-102+1389A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534424
chr2:46534563 T
T
 C
C
 2 a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0161
a0001c0001t0003g0162
 2 NA18941.hp2
NA19010.hp1
NA18941.hp2
NA19010.hp1
 intron_variant MODIFIER c.-102+1250A>G
c.-102+1250A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534563
chr2:46534662 C
C
 T
T
 3 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
 3 HG02886.hp1
HG02976.hp2
HG03209.hp2
HG02886.hp1
HG02976.hp2
HG03209.hp2
 intron_variant MODIFIER c.-102+1151G>A
c.-102+1151G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534662
chr2:46534663 G
G
 A
A
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-102+1150C>T
c.-102+1150C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534663
chr2:46534742 C
C
 T
T
 1 a0001c0001t0004g0103
a0001c0001t0004g0103
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.-102+1071G>A
c.-102+1071G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534742
chr2:46534768 C
C
 CCTTA
CCTTA
 261 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(258): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0006c0006t0007g0296
 358 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(355): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+1041_-102+104
others(8): Show 
c.-102+1041_-102+1044dupTAAG
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534768
chr2:46534884 C
C
 A
A
 6 a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
others(3): Show 
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 6 HG01175.hp2
HG02109.hp2
HG02145.hp1
others(3): Show 
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-102+929G>T
c.-102+929G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534884
chr2:46534890 A
A
 G
G
 261 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(258): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0006c0006t0007g0296
 358 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(355): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+923T>C
c.-102+923T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534890
chr2:46534895 T
T
 C
C
 58 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(55): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0195
 64 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(61): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03239.hp2
HG03710.hp1
HG04228.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-102+918A>G
c.-102+918A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534895
chr2:46534903 A
A
 G
G
 3 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0003g0127
a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0003g0127
 3 HG02055.hp2
HG03195.hp1
NA20129.hp2
HG02055.hp2
HG03195.hp1
NA20129.hp2
 intron_variant MODIFIER c.-102+910T>C
c.-102+910T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46534903
chr2:46535061 A
A
 G
G
 78 a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
others(75): Show 
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0202
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0010g0170
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0003c0004t0005g0133
a0003c0004t0005g0143
 96 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00642.hp2
HG00741.hp2
HG01099.hp1
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG02027.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18946.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18967.hp1
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18990.hp1
NA18992.hp2
NA18997.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19066.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+752T>C
c.-102+752T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535061
chr2:46535166 T
T
 A
A
 2 a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0240
a0001c0001t0001g0241
 2 NA19006.hp1
NA19068.hp2
NA19006.hp1
NA19068.hp2
 intron_variant MODIFIER c.-102+647A>T
c.-102+647A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535166
chr2:46535377 C
C
 T
T
 1 a0001c0001t0002g0295
a0001c0001t0002g0295
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-102+436G>A
c.-102+436G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535377
chr2:46535386 T
T
 A
A
 2 a0001c0001t0002g0209
a0001c0001t0002g0266
a0001c0001t0002g0209
a0001c0001t0002g0266
 2 HG00738.hp2
NA18522.hp1
HG00738.hp2
NA18522.hp1
 intron_variant MODIFIER c.-102+427A>T
c.-102+427A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535386
chr2:46535455 G
G
 C
C
 2 a0001c0001t0002g0209
a0001c0001t0002g0266
a0001c0001t0002g0209
a0001c0001t0002g0266
 2 HG00738.hp2
NA18522.hp1
HG00738.hp2
NA18522.hp1
 intron_variant MODIFIER c.-102+358C>G
c.-102+358C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535455
chr2:46535457 G
G
 A
A
 112 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(109): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0295
a0001c0001t0003g0041
a0001c0001t0003g0297
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0004c0007t0002g0246
 185 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(182): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+356C>T
c.-102+356C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535457
chr2:46535484 C
C
 T
T
 7 a0001c0001t0002g0033
a0001c0001t0002g0206
a0001c0001t0002g0243
others(4): Show 
a0001c0001t0002g0033
a0001c0001t0002g0206
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0011g0279
a0004c0007t0002g0246
 8 HG02056.hp1
HG02129.hp2
HG04228.hp2
others(5): Show 
HG02056.hp1
HG02129.hp2
HG04228.hp2
NA18975.hp2
NA19005.hp2
NA19059.hp1
NA19080.hp2
NA19240.hp1
 intron_variant MODIFIER c.-102+329G>A
c.-102+329G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535484
chr2:46535509 G
G
 A
A
 1 a0001c0001t0002g0288
a0001c0001t0002g0288
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.-102+304C>T
c.-102+304C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535509
chr2:46535650 G
G
 A
A
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.-102+163C>T
c.-102+163C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535650
chr2:46535659 T
T
 C
C
 1 a0001c0001t0001g0242
a0001c0001t0001g0242
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.-102+154A>G
c.-102+154A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535659
chr2:46535667 C
C
 T
T
 3 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
 3 HG02886.hp1
HG02976.hp2
HG03209.hp2
HG02886.hp1
HG02976.hp2
HG03209.hp2
 intron_variant MODIFIER c.-102+146G>A
c.-102+146G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 4/4 chr2 46535667
chr2:46536028 G
G
 A
A
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.-216-101C>T
c.-216-101C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 3/4 chr2 46536028
chr2:46536088 G
G
 C
C
 198 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(195): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0087
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0086
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
 289 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(286): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-216-161C>G
c.-216-161C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 3/4 chr2 46536088
chr2:46536104 C
C
 T
T
 2 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0001g0287
a0001c0001t0002g0288
 2 HG02055.hp2
NA20129.hp2
HG02055.hp2
NA20129.hp2
 intron_variant MODIFIER c.-216-177G>A
c.-216-177G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 3/4 chr2 46536104
chr2:46536185 G
G
 A
A
 2 a0001c0001t0005g0132
a0001c0001t0005g0163
a0001c0001t0005g0132
a0001c0001t0005g0163
 2 NA18943.hp1
NA18998.hp2
NA18943.hp1
NA18998.hp2
 intron_variant MODIFIER c.-216-258C>T
c.-216-258C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 3/4 chr2 46536185
chr2:46536234 A
A
 G
G
 52 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(49): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0007
a0001c0001t0002g0040
a0001c0001t0002g0191
a0001c0001t0002g0205
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0269
a0001c0001t0008g0043
a0001c0005t0001g0270
 96 HG00408.hp2
HG00544.hp1
HG00609.hp1
others(93): Show 
HG00408.hp2
HG00544.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG01081.hp2
HG01106.hp2
HG01257.hp1
HG01258.hp1
HG01496.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp2
HG02293.hp1
HG02486.hp2
HG02602.hp1
HG03491.hp2
HG03669.hp2
HG03704.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18953.hp2
NA18957.hp1
NA18963.hp1
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19006.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19058.hp2
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.-216-307T>C
c.-216-307T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 3/4 chr2 46536234
chr2:46536448 G
G
 A
A
 196 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(193): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
 287 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(284): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-217+163C>T
c.-217+163C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 3/4 chr2 46536448
chr2:46536759 T
T
 C
C
 59 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(56): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
 65 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(62): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03239.hp2
HG03710.hp1
HG04228.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-309-56A>G
c.-309-56A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46536759
chr2:46536786 T
T
 TCTTTTTT
others(310): Show 
TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC
GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA
GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG
CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT
AGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGA
CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT
GAGCCACCGCGCCCGGCC
 1 a0006c0006t0007g0296
a0006c0006t0007g0296
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-309-84_-309-83ins
others(317): Show 
c.-309-84_-309-83insGGCCGGGCGCGGTGGCTCACGCCTGTAATC
CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA
GACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA
AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG
CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC
GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT
CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46536786
chr2:46536787 C
C
 CT
CT
 7 a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0280
others(4): Show 
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0190
a0001c0001t0002g0282
 7 HG01074.hp1
HG02698.hp1
NA18942.hp1
others(4): Show 
HG01074.hp1
HG02698.hp1
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
NA20752.hp2
 intron_variant MODIFIER c.-309-85dupA
c.-309-85dupA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46536787
chr2:46536839 A
A
 G
G
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-309-136T>C
c.-309-136T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46536839
chr2:46536931 C
C
 T
T
 4 a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
others(1): Show 
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0282
 4 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(1): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
 intron_variant MODIFIER c.-309-228G>A
c.-309-228G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46536931
chr2:46537133 T
T
 G
G
 2 a0001c0001t0002g0271
a0001c0001t0002g0278
a0001c0001t0002g0271
a0001c0001t0002g0278
 2 HG00323.hp2
HG03239.hp1
HG00323.hp2
HG03239.hp1
 intron_variant MODIFIER c.-309-430A>C
c.-309-430A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537133
chr2:46537139 C
C
 T
T
 1 a0001c0001t0011g0279
a0001c0001t0011g0279
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-309-436G>A
c.-309-436G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537139
chr2:46537158 G
G
 A
A
 1 a0001c0001t0003g0176
a0001c0001t0003g0176
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.-309-455C>T
c.-309-455C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537158
chr2:46537258 G
G
 A
A
 1 a0001c0001t0001g0267
a0001c0001t0001g0267
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.-309-555C>T
c.-309-555C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537258
chr2:46537538 A
A
 C
C
 2 a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0216
a0001c0001t0001g0217
 2 NA18971.hp1
NA19091.hp1
NA18971.hp1
NA19091.hp1
 intron_variant MODIFIER c.-309-835T>G
c.-309-835T>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537538
chr2:46537553 T
T
 C
C
 4 a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
others(1): Show 
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0282
 4 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(1): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
 intron_variant MODIFIER c.-309-850A>G
c.-309-850A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537553
chr2:46537591 G
G
 A
A
 3 a0001c0001t0001g0023
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0023
a0001c0001t0001g0088
a0001c0001t0001g0089
 4 HG01070.hp1
HG01071.hp2
HG01256.hp2
others(1): Show 
HG01070.hp1
HG01071.hp2
HG01256.hp2
HG03239.hp2
 intron_variant MODIFIER c.-309-888C>T
c.-309-888C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537591
chr2:46537795 G
G
 A
A
 77 a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
others(74): Show 
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0202
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0010g0170
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0003c0004t0005g0133
a0003c0004t0005g0143
 95 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(92): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00642.hp2
HG00741.hp2
HG01099.hp1
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG02027.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18946.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18967.hp1
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18990.hp1
NA18992.hp2
NA18997.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19066.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-309-1092C>T
c.-309-1092C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537795
chr2:46537908 G
G
 T
T
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.-309-1205C>A
c.-309-1205C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537908
chr2:46537971 TAAAA
TAAAA
 T
T
 3 a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0002g0289
 3 HG02886.hp1
HG02976.hp2
HG03209.hp2
HG02886.hp1
HG02976.hp2
HG03209.hp2
 intron_variant MODIFIER c.-309-1272_-309-126
others(8): Show 
c.-309-1272_-309-1269delTTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46537971
chr2:46538045 C
C
 T
T
 1 a0001c0001t0005g0180
a0001c0001t0005g0180
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.-309-1342G>A
c.-309-1342G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538045
chr2:46538089 T
T
 G
G
 2 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0001g0287
a0001c0001t0002g0288
 2 HG02055.hp2
NA20129.hp2
HG02055.hp2
NA20129.hp2
 intron_variant MODIFIER c.-309-1386A>C
c.-309-1386A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538089
chr2:46538178 T
T
 C
C
 1 a0001c0008t0002g0292
a0001c0008t0002g0292
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.-309-1475A>G
c.-309-1475A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538178
chr2:46538260 G
G
 A
A
 1 a0001c0001t0003g0165
a0001c0001t0003g0165
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-309-1557C>T
c.-309-1557C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538260
chr2:46538267 G
G
 A
A
 1 a0001c0001t0003g0164
a0001c0001t0003g0164
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.-309-1564C>T
c.-309-1564C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538267
chr2:46538342 G
G
 C
C
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.-309-1639C>G
c.-309-1639C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538342
chr2:46538485 C
C
 T
T
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.-309-1782G>A
c.-309-1782G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538485
chr2:46538494 C
C
 CA
CA
 73 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(70): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0008t0002g0292
 79 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(76): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01496.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03017.hp2
HG03209.hp2
HG03239.hp2
HG03540.hp2
HG03710.hp1
HG04228.hp1
NA18522.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19030.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20905.hp2
 intron_variant MODIFIER c.-309-1792dupT
c.-309-1792dupT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538494
chr2:46538603 T
T
 C
C
 1 a0001c0001t0003g0178
a0001c0001t0003g0178
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.-309-1900A>G
c.-309-1900A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538603
chr2:46538660 T
T
 G
G
 1 a0001c0001t0001g0300
a0001c0001t0001g0300
 1 NA19006.hp2
NA19006.hp2
 intron_variant MODIFIER c.-309-1957A>C
c.-309-1957A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538660
chr2:46538668 T
T
 G
G
 78 a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
others(75): Show 
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0202
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0010g0170
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0003c0004t0005g0133
a0003c0004t0005g0143
 96 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00642.hp2
HG00741.hp2
HG01099.hp1
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG02027.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18943.hp1
NA18946.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18967.hp1
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18990.hp1
NA18992.hp2
NA18997.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19066.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-309-1965A>C
c.-309-1965A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46538668
chr2:46539085 C
C
 CCATTTAA
others(4): Show 
CCATTTAAACCA
 207 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(204): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
 298 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(295): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-310+2304_-310+230
others(15): Show 
c.-310+2304_-310+2305insTGGTTTAAATG
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539085
chr2:46539213 A
A
 G
G
 2 a0001c0001t0001g0287
a0001c0001t0002g0288
a0001c0001t0001g0287
a0001c0001t0002g0288
 2 HG02055.hp2
NA20129.hp2
HG02055.hp2
NA20129.hp2
 intron_variant MODIFIER c.-310+2177T>C
c.-310+2177T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539213
chr2:46539233 C
C
 A
A
 1 a0001c0001t0002g0269
a0001c0001t0002g0269
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.-310+2157G>T
c.-310+2157G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539233
chr2:46539307 G
G
 A
A
 56 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(53): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
 62 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(59): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01496.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03239.hp2
HG03710.hp1
HG04228.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19083.hp1
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-310+2083C>T
c.-310+2083C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539307
chr2:46539394 G
G
 A
A
 1 a0001c0001t0001g0268
a0001c0001t0001g0268
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.-310+1996C>T
c.-310+1996C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539394
chr2:46539428 G
G
 T
T
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.-310+1962C>A
c.-310+1962C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539428
chr2:46539450 T
T
 A
A
 1 a0001c0001t0002g0269
a0001c0001t0002g0269
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.-310+1940A>T
c.-310+1940A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539450
chr2:46539549 T
T
 G
G
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-310+1841A>C
c.-310+1841A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539549
chr2:46539807 G
G
 T
T
 5 a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0002t0002g0030
others(2): Show 
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
 6 HG01109.hp2
HG01884.hp2
HG02647.hp1
others(3): Show 
HG01109.hp2
HG01884.hp2
HG02647.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp2
 intron_variant MODIFIER c.-310+1583C>A
c.-310+1583C>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539807
chr2:46539922 C
C
 A
A
 1 a0001c0005t0001g0270
a0001c0005t0001g0270
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.-310+1468G>T
c.-310+1468G>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46539922
chr2:46540009 C
C
 G
G
 1 a0001c0001t0001g0287
a0001c0001t0001g0287
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-310+1381G>C
c.-310+1381G>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540009
chr2:46540099 C
C
 T
T
 1 a0001c0001t0002g0209
a0001c0001t0002g0209
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.-310+1291G>A
c.-310+1291G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540099
chr2:46540197 G
G
 C
C
 115 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(112): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0090
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0003g0041
a0001c0001t0003g0297
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0004c0007t0002g0246
a0005c0009t0001g0218
 188 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(185): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-310+1193C>G
c.-310+1193C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540197
chr2:46540436 C
C
 CAA
CAA
 7 a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0002g0205
others(4): Show 
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0271
 7 HG00323.hp2
NA18612.hp2
NA18951.hp2
others(4): Show 
HG00323.hp2
NA18612.hp2
NA18951.hp2
NA18987.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
 intron_variant MODIFIER c.-310+952_-310+953d
others(4): Show 
c.-310+952_-310+953dupTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540436
chr2:46540436 C
C
 CAAA
CAAA
 170 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(167): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0284
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0138
a0001c0001t0003g0182
a0001c0001t0003g0297
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 248 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(245): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-310+951_-310+953d
others(5): Show 
c.-310+951_-310+953dupTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540436
chr2:46540436 C
C
 CAAAA
CAAAA
 92 a0001c0001t0001g0023
a0001c0001t0001g0091
a0001c0001t0001g0092
others(89): Show 
a0001c0001t0001g0023
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0002g0282
a0001c0001t0002g0285
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0097
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0202
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0010g0170
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0003c0004t0005g0133
a0003c0004t0005g0143
 111 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(108): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00642.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02027.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18953.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18967.hp1
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18990.hp1
NA18992.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19066.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-310+950_-310+953d
others(6): Show 
c.-310+950_-310+953dupTTTT
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540436
chr2:46540553 C
C
 T
T
 91 a0001c0001t0001g0194
a0001c0001t0001g0280
a0001c0001t0001g0281
others(88): Show 
a0001c0001t0001g0194
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0282
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0098
a0001c0001t0003g0127
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0010g0170
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0003c0004t0005g0133
a0003c0004t0005g0143
 109 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(106): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00642.hp2
HG00741.hp2
HG01099.hp1
HG01109.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02027.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18953.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18967.hp1
NA18978.hp1
NA18979.hp2
NA18982.hp2
NA18990.hp1
NA18992.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19066.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-310+837G>A
c.-310+837G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540553
chr2:46540613 C
C
 CT
CT
 7 a0001c0001t0001g0046
a0001c0001t0004g0103
a0001c0001t0004g0104
others(4): Show 
a0001c0001t0001g0046
a0001c0001t0004g0103
a0001c0001t0004g0104
a0001c0001t0004g0105
a0001c0001t0004g0106
a0001c0001t0004g0199
a0006c0006t0007g0296
 7 HG01123.hp2
HG02630.hp1
HG02738.hp2
others(4): Show 
HG01123.hp2
HG02630.hp1
HG02738.hp2
NA18946.hp1
NA18948.hp2
NA18966.hp2
NA19002.hp2
 intron_variant MODIFIER c.-310+776dupA
c.-310+776dupA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 C
C
 CTTTTTTT
CTTTTTTT
 8 a0001c0001t0003g0098
a0001c0001t0003g0179
a0001c0001t0005g0029
others(5): Show 
a0001c0001t0003g0098
a0001c0001t0003g0179
a0001c0001t0005g0029
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 9 HG01109.hp1
HG01891.hp2
HG02109.hp2
others(6): Show 
HG01109.hp1
HG01891.hp2
HG02109.hp2
HG02559.hp1
HG02615.hp2
HG02630.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.-310+770_-310+776d
others(9): Show 
c.-310+770_-310+776dupAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 22 a0001c0001t0003g0002
a0001c0001t0003g0028
a0001c0001t0003g0127
others(19): Show 
a0001c0001t0003g0002
a0001c0001t0003g0028
a0001c0001t0003g0127
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0303
a0001c0001t0005g0128
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0010g0170
a0001c0002t0003g0304
 31 HG00140.hp1
HG01099.hp1
HG01168.hp1
others(28): Show 
HG00140.hp1
HG01099.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG02056.hp2
HG02698.hp2
HG02723.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp1
HG03195.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
NA18612.hp1
NA18747.hp2
NA18946.hp2
NA18960.hp2
NA19010.hp2
NA19043.hp2
NA20300.hp2
NA20905.hp2
 intron_variant MODIFIER c.-310+769_-310+776d
others(10): Show 
c.-310+769_-310+776dupAAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 37 a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
others(34): Show 
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0187
a0001c0001t0003g0202
a0001c0001t0005g0126
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0002t0003g0302
a0003c0004t0005g0143
 42 HG00140.hp2
HG00642.hp2
HG00741.hp2
others(39): Show 
HG00140.hp2
HG00642.hp2
HG00741.hp2
HG01192.hp2
HG01361.hp1
HG02486.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02738.hp1
HG02896.hp1
HG02970.hp1
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
NA18941.hp2
NA18967.hp1
NA18978.hp1
NA18979.hp2
NA18990.hp1
NA18997.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19054.hp1
NA19060.hp2
NA19081.hp2
NA19082.hp1
NA20752.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-310+768_-310+776d
others(11): Show 
c.-310+768_-310+776dupAAAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 10 a0001c0001t0003g0010
a0001c0001t0003g0134
a0001c0001t0003g0135
others(7): Show 
a0001c0001t0003g0010
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0186
a0001c0001t0005g0095
a0001c0001t0005g0125
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0002t0003g0301
a0003c0004t0005g0133
 13 HG00323.hp1
HG02027.hp2
HG02145.hp1
others(10): Show 
HG00323.hp1
HG02027.hp2
HG02145.hp1
HG02257.hp1
HG03130.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18957.hp2
NA18959.hp2
NA18982.hp2
NA18992.hp2
NA19066.hp1
 intron_variant MODIFIER c.-310+767_-310+776d
others(12): Show 
c.-310+767_-310+776dupAAAAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 2 a0001c0001t0003g0131
a0001c0001t0005g0132
a0001c0001t0003g0131
a0001c0001t0005g0132
 2 HG02809.hp2
NA18943.hp1
HG02809.hp2
NA18943.hp1
 intron_variant MODIFIER c.-310+766_-310+776d
others(13): Show 
c.-310+766_-310+776dupAAAAAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 1 a0001c0001t0003g0130
a0001c0001t0003g0130
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-310+765_-310+776d
others(14): Show 
c.-310+765_-310+776dupAAAAAAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 4 a0001c0001t0002g0203
a0001c0001t0002g0284
a0001c0001t0002g0285
others(1): Show 
a0001c0001t0002g0203
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0008g0043
 4 HG03453.hp2
HG03471.hp2
HG03491.hp2
others(1): Show 
HG03453.hp2
HG03471.hp2
HG03491.hp2
NA19030.hp2
 intron_variant MODIFIER c.-310+765_-310+776d
others(14): Show 
c.-310+765_-310+776delAAAAAAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 175 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(172): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0041
a0001c0001t0003g0297
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
 253 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(250): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-310+764_-310+776d
others(15): Show 
c.-310+764_-310+776delAAAAAAAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540613 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0002g0040
a0001c0001t0002g0040
 2 HG01081.hp2
HG01106.hp2
HG01081.hp2
HG01106.hp2
 intron_variant MODIFIER c.-310+763_-310+776d
others(16): Show 
c.-310+763_-310+776delAAAAAAAAAAAAAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540613
chr2:46540939 C
C
 T
T
 4 a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
others(1): Show 
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0002g0282
 4 NA18942.hp1
NA18945.hp1
NA18953.hp1
others(1): Show 
NA18942.hp1
NA18945.hp1
NA18953.hp1
NA18999.hp2
 intron_variant MODIFIER c.-310+451G>A
c.-310+451G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540939
chr2:46540992 G
G
 C
C
 1 a0001c0001t0003g0186
a0001c0001t0003g0186
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.-310+398C>G
c.-310+398C>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46540992
chr2:46541019 C
C
 T
T
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.-310+371G>A
c.-310+371G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46541019
chr2:46541224 T
T
 G
G
 9 a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
others(6): Show 
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0002g0017
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
 11 HG00323.hp2
HG01123.hp1
HG01167.hp1
others(8): Show 
HG00323.hp2
HG01123.hp1
HG01167.hp1
HG01261.hp1
HG01346.hp1
HG01952.hp1
HG02280.hp2
HG02300.hp1
HG03239.hp1
HG03654.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-310+166A>C
c.-310+166A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46541224
chr2:46541280 A
A
 T
T
 1 a0001c0001t0003g0201
a0001c0001t0003g0201
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-310+110T>A
c.-310+110T>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 2/4 chr2 46541280
chr2:46541511 C
C
 T
T
 112 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(109): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0192
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0004c0007t0002g0246
a0005c0009t0001g0218
 184 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(181): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-373-58G>A
c.-373-58G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46541511
chr2:46541664 G
G
 A
A
 1 a0001c0001t0001g0298
a0001c0001t0001g0298
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.-373-211C>T
c.-373-211C>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46541664
chr2:46541910 T
T
 C
C
 4 a0001c0001t0002g0093
a0001c0001t0003g0187
a0001c0001t0003g0188
others(1): Show 
a0001c0001t0002g0093
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
 4 HG00140.hp1
HG01099.hp1
HG01192.hp2
others(1): Show 
HG00140.hp1
HG01099.hp1
HG01192.hp2
HG03017.hp2
 intron_variant MODIFIER c.-374+307A>G
c.-374+307A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46541910
chr2:46541956 C
C
 T
T
 2 a0001c0001t0004g0100
a0001c0001t0004g0101
a0001c0001t0004g0100
a0001c0001t0004g0101
 2 HG00099.hp2
HG01070.hp2
HG00099.hp2
HG01070.hp2
 intron_variant MODIFIER c.-374+261G>A
c.-374+261G>A
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46541956
chr2:46541996 T
T
 C
C
 191 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(188): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0041
a0001c0001t0003g0297
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0196
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 272 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(269): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-374+221A>G
c.-374+221A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46541996
chr2:46542063 T
T
 C
C
 272 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(269): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0002g0190
a0001c0001t0002g0191
a0001c0001t0002g0193
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0002
a0001c0001t0003g0010
a0001c0001t0003g0013
a0001c0001t0003g0025
a0001c0001t0003g0026
a0001c0001t0003g0027
a0001c0001t0003g0028
a0001c0001t0003g0041
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0098
a0001c0001t0003g0130
a0001c0001t0003g0131
a0001c0001t0003g0134
a0001c0001t0003g0135
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0141
a0001c0001t0003g0142
a0001c0001t0003g0144
a0001c0001t0003g0145
a0001c0001t0003g0146
a0001c0001t0003g0148
a0001c0001t0003g0150
a0001c0001t0003g0151
a0001c0001t0003g0152
a0001c0001t0003g0153
a0001c0001t0003g0154
a0001c0001t0003g0155
a0001c0001t0003g0156
a0001c0001t0003g0157
a0001c0001t0003g0158
a0001c0001t0003g0159
a0001c0001t0003g0161
a0001c0001t0003g0162
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0166
a0001c0001t0003g0167
a0001c0001t0003g0168
a0001c0001t0003g0169
a0001c0001t0003g0173
a0001c0001t0003g0174
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0179
a0001c0001t0003g0182
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0188
a0001c0001t0003g0189
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0005g0029
a0001c0001t0005g0095
a0001c0001t0005g0132
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0160
a0001c0001t0005g0163
a0001c0001t0005g0171
a0001c0001t0005g0172
a0001c0001t0005g0180
a0001c0001t0005g0181
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
a0001c0001t0006g0195
a0001c0001t0007g0014
a0001c0001t0007g0196
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0010g0170
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0003c0004t0005g0133
a0003c0004t0005g0143
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 371 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(368): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-374+154A>G
c.-374+154A>G
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46542063
chr2:46542122 T
T
 G
G
 6 a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0042
others(3): Show 
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0042
a0001c0001t0001g0197
a0001c0001t0001g0299
a0001c0001t0001g0300
 15 HG00408.hp2
HG00609.hp1
HG01934.hp1
others(12): Show 
HG00408.hp2
HG00609.hp1
HG01934.hp1
HG02027.hp1
HG02083.hp1
HG02155.hp1
NA18941.hp1
NA18947.hp2
NA18950.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18978.hp2
NA18991.hp2
NA19006.hp2
 intron_variant MODIFIER c.-374+95A>C
c.-374+95A>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46542122
chr2:46542133 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.-374+84T>C
c.-374+84T>C
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46542133
chr2:46542195 A
A
 AT
AT
 6 a0001c0001t0001g0099
a0001c0001t0003g0096
a0001c0001t0003g0097
others(3): Show 
a0001c0001t0001g0099
a0001c0001t0003g0096
a0001c0001t0003g0097
a0001c0001t0003g0098
a0001c0001t0004g0094
a0001c0001t0005g0095
 6 HG00140.hp2
HG02257.hp1
HG04199.hp1
others(3): Show 
HG00140.hp2
HG02257.hp1
HG04199.hp1
NA18942.hp2
NA19012.hp2
NA19030.hp1
 intron_variant MODIFIER c.-374+21dupA
c.-374+21dupA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46542195
chr2:46542195 A
A
 ATT
ATT
 55 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
others(52): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0002g0019
a0001c0001t0002g0063
a0001c0001t0002g0093
a0001c0001t0006g0018
a0001c0001t0006g0052
a0001c0001t0006g0053
a0001c0001t0006g0054
a0001c0001t0006g0055
a0001c0001t0006g0056
a0001c0001t0006g0057
a0001c0001t0006g0058
a0001c0001t0006g0059
a0001c0001t0006g0060
a0001c0001t0006g0086
 61 HG00280.hp1
HG00597.hp2
HG00639.hp1
others(58): Show 
HG00280.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01261.hp2
HG01496.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03239.hp2
HG03710.hp1
HG04228.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18981.hp1
NA18987.hp2
NA18991.hp1
NA18998.hp1
NA19003.hp1
NA19005.hp1
NA19011.hp1
NA19054.hp2
NA19057.hp1
NA19070.hp1
NA19077.hp2
NA19089.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.-374+20_-374+21dup
others(2): Show 
c.-374+20_-374+21dupAA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46542195
chr2:46542195 AT
AT
 A
A
 137 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
others(134): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0042
a0001c0001t0001g0198
a0001c0001t0001g0204
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0222
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0237
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0265
a0001c0001t0001g0267
a0001c0001t0001g0268
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0280
a0001c0001t0001g0281
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0290
a0001c0001t0001g0291
a0001c0001t0001g0293
a0001c0001t0001g0294
a0001c0001t0001g0298
a0001c0001t0001g0299
a0001c0001t0001g0300
a0001c0001t0002g0003
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0036
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0203
a0001c0001t0002g0205
a0001c0001t0002g0206
a0001c0001t0002g0207
a0001c0001t0002g0208
a0001c0001t0002g0209
a0001c0001t0002g0214
a0001c0001t0002g0221
a0001c0001t0002g0223
a0001c0001t0002g0228
a0001c0001t0002g0233
a0001c0001t0002g0234
a0001c0001t0002g0243
a0001c0001t0002g0244
a0001c0001t0002g0245
a0001c0001t0002g0247
a0001c0001t0002g0248
a0001c0001t0002g0249
a0001c0001t0002g0251
a0001c0001t0002g0254
a0001c0001t0002g0255
a0001c0001t0002g0256
a0001c0001t0002g0257
a0001c0001t0002g0258
a0001c0001t0002g0259
a0001c0001t0002g0260
a0001c0001t0002g0261
a0001c0001t0002g0262
a0001c0001t0002g0263
a0001c0001t0002g0264
a0001c0001t0002g0266
a0001c0001t0002g0269
a0001c0001t0002g0271
a0001c0001t0002g0272
a0001c0001t0002g0273
a0001c0001t0002g0274
a0001c0001t0002g0278
a0001c0001t0002g0282
a0001c0001t0002g0284
a0001c0001t0002g0285
a0001c0001t0002g0288
a0001c0001t0002g0289
a0001c0001t0002g0295
a0001c0001t0003g0041
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0297
a0001c0001t0003g0303
a0001c0001t0004g0199
a0001c0001t0004g0200
a0001c0001t0008g0043
a0001c0001t0009g0044
a0001c0001t0011g0279
a0001c0002t0002g0030
a0001c0002t0002g0212
a0001c0002t0002g0213
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
a0001c0005t0001g0270
a0001c0008t0002g0292
a0004c0007t0002g0246
a0005c0009t0001g0218
a0006c0006t0007g0296
 210 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(207): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp2
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19090.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-374+21delA
c.-374+21delA
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46542195
chr2:46542197 T
T
 A
A
 7 a0001c0001t0003g0303
a0001c0002t0003g0301
a0001c0002t0003g0302
others(4): Show 
a0001c0001t0003g0303
a0001c0002t0003g0301
a0001c0002t0003g0302
a0001c0002t0003g0304
a0001c0002t0003g0305
a0001c0002t0003g0306
a0001c0002t0003g0307
 7 HG01175.hp2
HG02109.hp2
HG02145.hp1
others(4): Show 
HG01175.hp2
HG02109.hp2
HG02145.hp1
HG02615.hp2
HG03516.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.-374+20A>T
c.-374+20A>T
ATP6V1E2 ENSG00000250565.7 transcript ENST00000522587.6 protein_coding 1/4 chr2 46542197

  • 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.