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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ATP6V1A_chr3_113742035_113817056  ATP6V1A_chr3_113742035_113817056 (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 523
ensemblid ENSG00000114573.12
hgncid 851
symbol ATP6V1A
name ATPase H+ transporting V1 subunit A
refseq_nuc NM_001690.4
refseq_prot NP_001681.2
ensembl_nuc ENST00000273398.8
ensembl_prot ENSP00000273398.3
mane_status MANE Select
chr chr3
start 113747035
end 113812056
strand +
ver v1.2
region chr3:113747035-113812056
region5000 chr3:113742035-113817056
regionname0 ATP6V1A_chr3_113747035_113812056
regionname5000 ATP6V1A_chr3_113742035_113817056

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 617 312 74 52 140 14 30 104 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056

chapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 1854 312 74 52 140 14 30 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 2722 159 27 25 80 8 17 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0002 0/0 2722 104 28 14 49 6 7 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0003 0/0 2722 11 0 0 7 0 4 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0004 0/0 2722 7 6 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0005 0/0 2722 6 0 4 2 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0006 0/0 2722 5 0 5 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0007 0/0 2722 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0008 0/0 2722 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0009 0/0 2722 2 1 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0010 0/0 2722 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0011 0/0 2722 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0012 0/0 2722 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0013 0/0 2722 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0014 0/0 2722 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0015 0/0 2722 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0016 0/0 2722 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0017 0/0 2722 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0018 0/0 2722 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0019 0/0 2722 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0020 0/0 2722 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0021 0/0 2722 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0022 0/0 2722 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
t0023 0/0 2722 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 5 0 0 5 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0002 0/0 4 0 0 3 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0003 0/0 3 3 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0004 0/0 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0005 0/0 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0006 0/0 2 0 0 2 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0007 0/0 2 0 0 1 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0008 0/0 2 0 0 0 2 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0009 0/0 2 0 1 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0010 0/0 2 0 2 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0011 0/0 2 0 0 0 2 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0012 0/0 2 0 0 2 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0013 0/0 2 0 0 2 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0014 0/0 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0015 0/0 2 0 2 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0016 0/0 2 0 2 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0017 0/0 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0018 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0019 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0020 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0021 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0022 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0023 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0024 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0025 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0026 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0027 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0028 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0029 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0030 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0031 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0032 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0033 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0034 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0035 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0036 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0037 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0038 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0039 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0040 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0041 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0042 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0043 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0044 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0045 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0046 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0047 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0048 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0049 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0050 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0051 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0052 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0053 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0054 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0055 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0056 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0057 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0058 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0059 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0060 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0061 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0062 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0063 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0064 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0065 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0066 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0067 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0068 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0069 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0070 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0071 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0072 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0073 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0074 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0075 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0076 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0077 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0078 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0079 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0080 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0081 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0082 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0083 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0084 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0085 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0086 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0087 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0088 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0089 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0090 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0091 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0092 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0093 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0094 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0095 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0096 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0097 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0098 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0099 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0100 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0101 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0102 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0103 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0104 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0105 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0106 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0107 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0108 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0109 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0110 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0111 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0112 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0113 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0114 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0115 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0116 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0117 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0118 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0119 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0120 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0121 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0122 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0123 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0124 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0125 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0126 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0127 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0128 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0129 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0130 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0131 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0132 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0133 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0134 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0135 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0136 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0137 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0138 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0139 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0140 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0141 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0142 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0143 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0144 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0145 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0146 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0147 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0148 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0149 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0150 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0151 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0152 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0153 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0154 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0155 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0156 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0157 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0158 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0159 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0160 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0161 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0162 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0163 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0164 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0165 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0166 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0167 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0168 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0169 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0170 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0171 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0172 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0173 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0174 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0175 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0176 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0177 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0178 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0179 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0180 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0181 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0182 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0183 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0184 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0185 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0186 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0187 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0188 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0189 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0190 1/0 1 0 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0191 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0192 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0193 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0194 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0195 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0196 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0197 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0198 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0199 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0200 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0201 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0202 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0203 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0204 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0205 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0206 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0207 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0208 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0209 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0210 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0211 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0212 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0213 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0214 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0215 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0216 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0217 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0218 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0219 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0220 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0221 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0222 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0223 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0224 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0225 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0226 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0227 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0228 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0229 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0230 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0231 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0232 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0233 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0234 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0235 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0236 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0237 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0238 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0239 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0240 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0241 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0242 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0243 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0244 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0245 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0246 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0247 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0248 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0249 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0250 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0251 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0252 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0253 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0254 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0255 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0256 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0257 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0258 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0259 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0260 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0261 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0262 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0263 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0264 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0265 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0266 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0267 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0268 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0269 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0270 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0271 0/1 1 0 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0272 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0273 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0274 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0275 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0276 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0277 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0278 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0279 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0280 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0281 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0282 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0283 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0284 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0285 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0286 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0287 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0288 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
g0289 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056

achapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 1854 312 74 52 140 14 30 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 4575 159 27 25 80 8 17 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0002 0/0 4575 104 28 14 49 6 7 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0003 0/0 4575 11 0 0 7 0 4 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0004 0/0 4575 7 6 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0005 0/0 4575 6 0 4 2 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0006 0/0 4575 5 0 5 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0007 0/0 4575 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0008 0/0 4575 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0009 0/0 4575 2 1 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0010 0/0 4575 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0011 0/0 4575 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0012 0/0 4575 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0013 0/0 4575 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0014 0/0 4575 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0015 0/0 4575 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0016 0/0 4575 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0017 0/0 4575 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0018 0/0 4575 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0019 0/0 4575 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0020 0/0 4575 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0021 0/0 4575 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0022 0/0 4575 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056
a0001c0001t0023 0/0 4575 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A copy fasta chr3 113742035 113817056

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0002 0/0 4 0 0 3 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0011 0/0 2 0 0 0 2 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0012 0/0 2 0 0 2 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0013 0/0 2 0 0 2 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0014 0/0 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0015 0/0 2 0 2 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0017 0/0 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0020 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0028 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0029 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0030 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0036 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0109 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0110 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0116 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0137 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0141 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0142 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0143 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0144 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0145 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0146 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0147 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0148 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0149 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0150 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0151 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0152 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0153 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0156 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0157 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0158 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0159 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0160 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0161 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0162 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0163 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0166 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0167 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0168 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0169 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0171 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0172 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0173 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0174 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0175 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0176 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0177 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0178 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0179 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0180 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0182 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0183 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0184 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0185 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0186 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0187 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0188 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0189 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0190 1/0 1 0 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0191 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0192 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0193 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0194 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0195 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0197 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0198 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0199 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0200 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0201 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0202 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0203 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0204 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0205 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0206 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0207 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0208 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0209 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0210 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0211 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0212 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0213 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0214 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0215 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0216 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0218 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0219 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0221 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0222 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0223 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0224 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0225 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0227 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0228 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0229 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0230 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0231 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0232 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0233 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0234 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0235 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0236 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0238 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0239 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0240 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0241 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0242 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0243 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0244 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0245 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0246 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0247 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0248 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0249 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0250 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0251 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0252 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0253 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0254 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0255 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0256 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0257 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0258 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0259 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0260 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0261 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0262 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0263 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0264 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0265 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0266 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0268 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0269 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0270 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0271 0/1 1 0 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0272 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0273 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0274 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0275 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0276 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0277 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0278 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0280 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0284 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0286 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0287 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0288 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0001g0289 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0001 0/0 5 0 0 5 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0003 0/0 3 3 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0004 0/0 2 2 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0005 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0006 0/0 2 0 0 2 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0007 0/0 2 0 0 1 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0008 0/0 2 0 0 0 2 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0009 0/0 2 0 1 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0032 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0033 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0034 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0037 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0038 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0039 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0040 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0041 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0042 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0043 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0044 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0045 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0046 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0047 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0048 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0049 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0050 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0052 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0053 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0054 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0055 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0056 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0057 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0058 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0059 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0060 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0061 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0063 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0064 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0065 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0066 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0067 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0068 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0069 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0070 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0071 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0072 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0073 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0074 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0075 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0076 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0077 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0078 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0079 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0080 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0081 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0082 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0084 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0085 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0086 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0087 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0088 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0089 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0090 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0091 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0092 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0093 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0094 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0095 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0096 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0097 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0098 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0099 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0100 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0101 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0102 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0103 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0104 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0105 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0106 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0107 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0108 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0111 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0113 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0114 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0115 0/0 1 0 0 0 1 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0117 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0118 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0129 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0130 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0131 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0132 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0133 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0134 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0002g0135 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0119 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0120 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0121 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0122 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0123 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0124 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0125 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0126 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0127 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0128 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0003g0136 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0004g0018 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0004g0021 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0004g0022 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0004g0023 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0004g0024 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0004g0025 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0004g0026 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0005g0016 0/0 2 0 2 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0005g0181 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0005g0196 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0005g0217 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0005g0267 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0006g0010 0/0 2 0 2 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0006g0138 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0006g0139 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0006g0140 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0007g0281 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0007g0282 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0008g0083 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0008g0165 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0009g0154 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0009g0155 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0010g0005 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0011g0112 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0012g0062 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0013g0051 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0014g0019 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0015g0237 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0016g0027 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0017g0220 0/0 1 0 0 1 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0018g0285 0/0 1 0 1 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0019g0283 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0020g0226 0/0 1 0 0 0 0 1 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0021g0031 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0022g0035 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
a0001c0001t0023g0279 0/0 1 1 0 0 0 0 ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0001 t0001 g0259 EUR GBR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00140 hp2 a0001 c0001 t0002 g0097 EUR GBR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00280 hp1 a0001 c0001 t0002 g0007 EUR FIN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00280 hp2 a0001 c0001 t0001 g0270 EUR FIN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00323 hp1 a0001 c0001 t0001 g0161 EUR FIN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00323 hp2 a0001 c0001 t0002 g0092 EUR FIN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00408 hp1 a0001 c0001 t0001 g0143 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00408 hp2 a0001 c0001 t0002 g0090 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00423 hp1 a0001 c0001 t0017 g0220 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00423 hp2 a0001 c0001 t0002 g0066 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00438 hp1 a0001 c0001 t0001 g0214 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00438 hp2 a0001 c0001 t0002 g0076 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00558 hp1 a0001 c0001 t0002 g0001 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00558 hp2 a0001 c0001 t0001 g0249 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00597 hp1 a0001 c0001 t0002 g0075 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00597 hp2 a0001 c0001 t0001 g0247 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00609 hp1 a0001 c0001 t0001 g0145 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00609 hp2 a0001 c0001 t0001 g0284 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00621 hp1 a0001 c0001 t0001 g0242 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00621 hp2 a0001 c0001 t0002 g0001 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00642 hp1 a0001 c0001 t0002 g0134 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00642 hp2 a0001 c0001 t0001 g0168 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00673 hp1 a0001 c0001 t0001 g0180 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG00673 hp2 a0001 c0001 t0001 g0012 EAS CHS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01069 hp1 a0001 c0001 t0005 g0016 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01069 hp2 a0001 c0001 t0002 g0071 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01071 hp1 a0001 c0001 t0001 g0195 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01071 hp2 a0001 c0001 t0005 g0016 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01074 hp1 a0001 c0001 t0001 g0221 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01074 hp2 a0001 c0001 t0002 g0133 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01081 hp1 a0001 c0001 t0001 g0159 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01081 hp2 a0001 c0001 t0009 g0155 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01099 hp1 a0001 c0001 t0001 g0178 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01099 hp2 a0001 c0001 t0002 g0132 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01106 hp1 a0001 c0001 t0004 g0025 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01106 hp2 a0001 c0001 t0001 g0288 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01109 hp1 a0001 c0001 t0001 g0243 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01109 hp2 a0001 c0001 t0001 g0141 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01168 hp1 a0001 c0001 t0001 g0280 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01168 hp2 a0001 c0001 t0001 g0241 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01175 hp1 a0001 c0001 t0002 g0135 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01175 hp2 a0001 c0001 t0001 g0206 AMR PUR ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01255 hp1 a0001 c0001 t0002 g0113 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01255 hp2 a0001 c0001 t0018 g0285 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01256 hp1 a0001 c0001 t0002 g0095 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01256 hp2 a0001 c0001 t0001 g0162 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01257 hp1 a0001 c0001 t0002 g0078 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01257 hp2 a0001 c0001 t0001 g0015 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01258 hp1 a0001 c0001 t0002 g0094 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01258 hp2 a0001 c0001 t0001 g0015 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01261 hp1 a0001 c0001 t0001 g0265 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01261 hp2 a0001 c0001 t0002 g0044 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01346 hp1 a0001 c0001 t0002 g0107 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01346 hp2 a0001 c0001 t0001 g0255 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01358 hp1 a0001 c0001 t0016 g0027 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01358 hp2 a0001 c0001 t0001 g0286 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01361 hp1 a0001 c0001 t0001 g0174 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01361 hp2 a0001 c0001 t0001 g0289 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01433 hp1 a0001 c0001 t0001 g0268 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01433 hp2 a0001 c0001 t0005 g0196 AMR CLM ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01515 hp1 a0001 c0001 t0001 g0160 EUR IBS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01515 hp2 a0001 c0001 t0002 g0008 EUR IBS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01516 hp1 a0001 c0001 t0001 g0011 EUR IBS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01516 hp2 a0001 c0001 t0001 g0252 EUR IBS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01517 hp1 a0001 c0001 t0002 g0008 EUR IBS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01517 hp2 a0001 c0001 t0001 g0011 EUR IBS ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01891 hp1 a0001 c0001 t0008 g0083 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01891 hp2 a0001 c0001 t0019 g0283 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01934 hp1 a0001 c0001 t0001 g0204 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01934 hp2 a0001 c0001 t0006 g0010 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01952 hp1 a0001 c0001 t0006 g0140 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01952 hp2 a0001 c0001 t0001 g0201 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01993 hp1 a0001 c0001 t0002 g0009 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG01993 hp2 a0001 c0001 t0001 g0198 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02004 hp1 a0001 c0001 t0001 g0186 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02004 hp2 a0001 c0001 t0002 g0061 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02040 hp1 a0001 c0001 t0001 g0224 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02040 hp2 a0001 c0001 t0001 g0189 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02055 hp1 a0001 c0001 t0002 g0084 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02055 hp2 a0001 c0001 t0002 g0056 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02056 hp1 a0001 c0001 t0001 g0253 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02056 hp2 a0001 c0001 t0001 g0246 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02071 hp1 a0001 c0001 t0002 g0060 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02071 hp2 a0001 c0001 t0001 g0164 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02080 hp1 a0001 c0001 t0002 g0073 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02080 hp2 a0001 c0001 t0001 g0151 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02132 hp1 a0001 c0001 t0001 g0233 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02132 hp2 a0001 c0001 t0002 g0068 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02135 hp1 a0001 c0001 t0001 g0254 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02135 hp2 a0001 c0001 t0002 g0111 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02145 hp1 a0001 c0001 t0002 g0093 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02145 hp2 a0001 c0001 t0022 g0035 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02148 hp1 a0001 c0001 t0006 g0139 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02148 hp2 a0001 c0001 t0001 g0199 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02165 hp1 a0001 c0001 t0001 g0260 EAS CDX ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02165 hp2 a0001 c0001 t0001 g0013 EAS CDX ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02257 hp1 a0001 c0001 t0002 g0104 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02257 hp2 a0001 c0001 t0001 g0278 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02258 hp1 a0001 c0001 t0011 g0112 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02258 hp2 a0001 c0001 t0001 g0028 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02273 hp1 a0001 c0001 t0005 g0267 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02273 hp2 a0001 c0001 t0006 g0138 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02280 hp1 a0001 c0001 t0001 g0030 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02280 hp2 a0001 c0001 t0002 g0102 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02300 hp1 a0001 c0001 t0006 g0010 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02300 hp2 a0001 c0001 t0002 g0096 AMR PEL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02523 hp1 a0001 c0001 t0001 g0191 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02523 hp2 a0001 c0001 t0001 g0012 EAS KHV ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02602 hp1 a0001 c0001 t0002 g0106 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02602 hp2 a0001 c0001 t0001 g0244 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02615 hp1 a0001 c0001 t0001 g0142 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02615 hp2 a0001 c0001 t0002 g0003 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02622 hp1 a0001 c0001 t0002 g0004 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02622 hp2 a0001 c0001 t0001 g0194 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02630 hp1 a0001 c0001 t0001 g0219 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02630 hp2 a0001 c0001 t0001 g0272 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02683 hp1 a0001 c0001 t0012 g0062 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02683 hp2 a0001 c0001 t0001 g0287 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02698 hp1 a0001 c0001 t0001 g0176 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02698 hp2 a0001 c0001 t0003 g0122 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02738 hp1 a0001 c0001 t0001 g0152 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02738 hp2 a0001 c0001 t0003 g0119 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02809 hp1 a0001 c0001 t0002 g0049 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02809 hp2 a0001 c0001 t0002 g0108 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02818 hp1 a0001 c0001 t0004 g0026 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02818 hp2 a0001 c0001 t0001 g0146 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02886 hp1 a0001 c0001 t0001 g0277 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02886 hp2 a0001 c0001 t0001 g0210 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02895 hp1 a0001 c0001 t0004 g0024 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02895 hp2 a0001 c0001 t0009 g0154 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02896 hp1 a0001 c0001 t0002 g0131 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02896 hp2 a0001 c0001 t0023 g0279 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02897 hp1 a0001 c0001 t0002 g0130 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02897 hp2 a0001 c0001 t0004 g0021 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02922 hp1 a0001 c0001 t0001 g0036 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02922 hp2 a0001 c0001 t0002 g0053 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02965 hp1 a0001 c0001 t0002 g0004 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02965 hp2 a0001 c0001 t0008 g0165 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02976 hp1 a0001 c0001 t0002 g0041 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02976 hp2 a0001 c0001 t0001 g0017 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03041 hp1 a0001 c0001 t0002 g0003 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03041 hp2 a0001 c0001 t0001 g0147 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03098 hp1 a0001 c0001 t0001 g0020 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03098 hp2 a0001 c0001 t0007 g0282 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03130 hp1 a0001 c0001 t0004 g0023 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03130 hp2 a0001 c0001 t0002 g0129 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03139 hp1 a0001 c0001 t0001 g0029 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03139 hp2 a0001 c0001 t0001 g0148 AFR ESN ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03225 hp1 a0001 c0001 t0013 g0051 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03225 hp2 a0001 c0001 t0010 g0005 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03239 hp1 a0001 c0001 t0001 g0273 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03239 hp2 a0001 c0001 t0002 g0064 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03453 hp1 a0001 c0001 t0001 g0187 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03453 hp2 a0001 c0001 t0002 g0118 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03486 hp1 a0001 c0001 t0001 g0193 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03486 hp2 a0001 c0001 t0002 g0052 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03490 hp1 a0001 c0001 t0001 g0200 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03490 hp2 a0001 c0001 t0002 g0105 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03540 hp1 a0001 c0001 t0001 g0225 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03540 hp2 a0001 c0001 t0001 g0017 AFR GWD ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03579 hp1 a0001 c0001 t0021 g0031 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03579 hp2 a0001 c0001 t0001 g0014 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03654 hp1 a0001 c0001 t0001 g0240 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03654 hp2 a0001 c0001 t0001 g0203 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03669 hp1 a0001 c0001 t0002 g0089 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03669 hp2 a0001 c0001 t0001 g0185 SAS PJL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03688 hp1 a0001 c0001 t0002 g0100 SAS STU ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03688 hp2 a0001 c0001 t0001 g0002 SAS STU ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03942 hp1 a0001 c0001 t0003 g0128 SAS BEB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03942 hp2 a0001 c0001 t0001 g0175 SAS BEB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG04115 hp1 a0001 c0001 t0001 g0235 SAS STU ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG04115 hp2 a0001 c0001 t0002 g0074 SAS STU ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG04184 hp1 a0001 c0001 t0003 g0123 SAS BEB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG04184 hp2 a0001 c0001 t0001 g0228 SAS BEB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG04199 hp1 a0001 c0001 t0001 g0197 SAS STU ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG04199 hp2 a0001 c0001 t0001 g0177 SAS STU ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG04204 hp1 a0001 c0001 t0002 g0117 SAS STU ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG04204 hp2 a0001 c0001 t0001 g0188 SAS STU ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18522 hp1 a0001 c0001 t0001 g0014 AFR YRI ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18522 hp2 a0001 c0001 t0004 g0018 AFR YRI ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18612 hp1 a0001 c0001 t0002 g0001 EAS CHB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18612 hp2 a0001 c0001 t0001 g0182 EAS CHB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18747 hp1 a0001 c0001 t0002 g0070 EAS CHB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18747 hp2 a0001 c0001 t0001 g0248 EAS CHB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18906 hp1 a0001 c0001 t0001 g0192 AFR YRI ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18906 hp2 a0001 c0001 t0002 g0101 AFR YRI ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18944 hp1 a0001 c0001 t0001 g0234 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18944 hp2 a0001 c0001 t0002 g0007 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18950 hp1 a0001 c0001 t0002 g0046 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18950 hp2 a0001 c0001 t0001 g0276 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18951 hp1 a0001 c0001 t0002 g0037 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18951 hp2 a0001 c0001 t0001 g0245 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18953 hp1 a0001 c0001 t0002 g0057 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18953 hp2 a0001 c0001 t0001 g0205 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18956 hp1 a0001 c0001 t0002 g0085 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18956 hp2 a0001 c0001 t0001 g0150 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18959 hp1 a0001 c0001 t0002 g0033 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18959 hp2 a0001 c0001 t0001 g0227 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18960 hp1 a0001 c0001 t0001 g0144 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18960 hp2 a0001 c0001 t0001 g0236 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18961 hp1 a0001 c0001 t0001 g0171 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18961 hp2 a0001 c0001 t0001 g0269 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18962 hp1 a0001 c0001 t0002 g0006 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18962 hp2 a0001 c0001 t0001 g0172 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18963 hp1 a0001 c0001 t0001 g0230 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18963 hp2 a0001 c0001 t0002 g0065 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18965 hp1 a0001 c0001 t0001 g0258 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18965 hp2 a0001 c0001 t0001 g0110 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18966 hp1 a0001 c0001 t0003 g0136 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18966 hp2 a0001 c0001 t0001 g0109 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18967 hp1 a0001 c0001 t0001 g0222 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18967 hp2 a0001 c0001 t0003 g0126 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18970 hp1 a0001 c0001 t0015 g0237 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18970 hp2 a0001 c0001 t0001 g0212 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18971 hp1 a0001 c0001 t0001 g0257 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18971 hp2 a0001 c0001 t0002 g0098 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18972 hp1 a0001 c0001 t0002 g0088 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18972 hp2 a0001 c0001 t0001 g0208 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18975 hp1 a0001 c0001 t0002 g0058 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18975 hp2 a0001 c0001 t0001 g0275 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18977 hp1 a0001 c0001 t0001 g0239 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18977 hp2 a0001 c0001 t0001 g0167 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18978 hp1 a0001 c0001 t0001 g0207 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18978 hp2 a0001 c0001 t0002 g0080 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18979 hp1 a0001 c0001 t0002 g0006 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18979 hp2 a0001 c0001 t0005 g0217 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18980 hp1 a0001 c0001 t0001 g0169 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18980 hp2 a0001 c0001 t0003 g0120 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18981 hp1 a0001 c0001 t0002 g0086 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18981 hp2 a0001 c0001 t0001 g0002 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18983 hp1 a0001 c0001 t0001 g0213 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18983 hp2 a0001 c0001 t0002 g0001 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18984 hp1 a0001 c0001 t0002 g0042 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18984 hp2 a0001 c0001 t0001 g0002 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18985 hp1 a0001 c0001 t0002 g0077 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18985 hp2 a0001 c0001 t0001 g0264 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18986 hp1 a0001 c0001 t0001 g0231 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18986 hp2 a0001 c0001 t0001 g0170 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18988 hp1 a0001 c0001 t0001 g0209 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18988 hp2 a0001 c0001 t0002 g0091 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18991 hp1 a0001 c0001 t0002 g0032 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18991 hp2 a0001 c0001 t0001 g0153 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18993 hp1 a0001 c0001 t0002 g0038 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18993 hp2 a0001 c0001 t0001 g0223 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18994 hp1 a0001 c0001 t0001 g0251 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18994 hp2 a0001 c0001 t0005 g0181 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18995 hp1 a0001 c0001 t0002 g0045 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18995 hp2 a0001 c0001 t0001 g0274 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18997 hp1 a0001 c0001 t0001 g0173 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18997 hp2 a0001 c0001 t0002 g0040 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18998 hp1 a0001 c0001 t0003 g0121 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18998 hp2 a0001 c0001 t0001 g0266 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18999 hp1 a0001 c0001 t0002 g0087 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18999 hp2 a0001 c0001 t0001 g0002 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19000 hp1 a0001 c0001 t0002 g0048 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19000 hp2 a0001 c0001 t0003 g0127 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19003 hp1 a0001 c0001 t0003 g0124 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19003 hp2 a0001 c0001 t0001 g0262 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19005 hp1 a0001 c0001 t0002 g0001 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19005 hp2 a0001 c0001 t0001 g0238 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19006 hp1 a0001 c0001 t0001 g0232 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19006 hp2 a0001 c0001 t0002 g0043 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19007 hp1 a0001 c0001 t0001 g0179 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19007 hp2 a0001 c0001 t0002 g0067 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19011 hp1 a0001 c0001 t0002 g0034 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19011 hp2 a0001 c0001 t0001 g0013 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19012 hp1 a0001 c0001 t0001 g0149 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19012 hp2 a0001 c0001 t0001 g0137 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19030 hp1 a0001 c0001 t0002 g0069 AFR LWK ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19030 hp2 a0001 c0001 t0001 g0263 AFR LWK ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19043 hp1 a0001 c0001 t0004 g0022 AFR LWK ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19043 hp2 a0001 c0001 t0001 g0157 AFR LWK ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19060 hp1 a0001 c0001 t0002 g0082 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19060 hp2 a0001 c0001 t0001 g0256 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19065 hp1 a0001 c0001 t0001 g0183 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19065 hp2 a0001 c0001 t0001 g0202 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19066 hp1 a0001 c0001 t0002 g0009 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19066 hp2 a0001 c0001 t0003 g0125 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19067 hp1 a0001 c0001 t0002 g0059 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19067 hp2 a0001 c0001 t0001 g0158 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19074 hp1 a0001 c0001 t0001 g0215 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19074 hp2 a0001 c0001 t0002 g0047 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19075 hp1 a0001 c0001 t0001 g0261 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19075 hp2 a0001 c0001 t0002 g0039 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19081 hp1 a0001 c0001 t0002 g0079 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19081 hp2 a0001 c0001 t0001 g0163 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19085 hp1 a0001 c0001 t0001 g0211 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19085 hp2 a0001 c0001 t0002 g0072 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19090 hp1 a0001 c0001 t0001 g0116 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19090 hp2 a0001 c0001 t0001 g0250 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19091 hp1 a0001 c0001 t0002 g0081 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA19091 hp2 a0001 c0001 t0001 g0166 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA20129 hp1 a0001 c0001 t0002 g0005 AFR ASW ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA20129 hp2 a0001 c0001 t0001 g0218 AFR ASW ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA20752 hp1 a0001 c0001 t0001 g0184 EUR TSI ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA20752 hp2 a0001 c0001 t0002 g0115 EUR TSI ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA20905 hp1 a0001 c0001 t0020 g0226 SAS GIH ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA20905 hp2 a0001 c0001 t0001 g0156 SAS GIH ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02486 hp1 a0001 c0001 t0014 g0019 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02486 hp2 a0001 c0001 t0002 g0050 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02559 hp1 a0001 c0001 t0002 g0054 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG02559 hp2 a0001 c0001 t0002 g0003 AFR ACB ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03471 hp1 a0001 c0001 t0002 g0055 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
HG03471 hp2 a0001 c0001 t0002 g0103 AFR MSL ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18955 hp1 a0001 c0001 t0002 g0099 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA18955 hp2 a0001 c0001 t0001 g0229 EAS JPT ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA20300 hp1 a0001 c0001 t0001 g0216 AFR USA ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA20300 hp2 a0001 c0001 t0007 g0281 AFR USA ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA21309 hp1 a0001 c0001 t0002 g0114 AFR LWK ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
NA21309 hp2 a0001 c0001 t0002 g0063 AFR LWK ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0271 REF REF ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0190 REF REF ATP6V1A_chr3_113742035_113817056 ATP6V1A chr3 113742035 113817056

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

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr3:113809431
C
C
 T
T
 3 a0001c0001t0003
a0001c0001t0022
a0001c0001t0023
a0001c0001t0003
a0001c0001t0022
a0001c0001t0023
 13 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(10): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*4C>T
c.*4C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 4 chr3 113809431
chr3:113809842
T
T
 G
G
 5 a0001c0001t0002
a0001c0001t0010
a0001c0001t0011
others(2): Show 
a0001c0001t0002
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
 108 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(105): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*415T>G
c.*415T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 415 chr3 113809842
chr3:113809918
A
A
 G
G
 1 a0001c0001t0009
a0001c0001t0009
 2 HG01081.hp2
HG02895.hp2
HG01081.hp2
HG02895.hp2
 3_prime_UTR_variant MODIFIER c.*491A>G
c.*491A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 491 chr3 113809918
chr3:113809936
T
T
 C
C
 1 a0001c0001t0010
a0001c0001t0010
 1 HG03225.hp2
HG03225.hp2
 3_prime_UTR_variant MODIFIER c.*509T>C
c.*509T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 509 chr3 113809936
chr3:113810048
A
A
 T
T
 3 a0001c0001t0003
a0001c0001t0022
a0001c0001t0023
a0001c0001t0003
a0001c0001t0022
a0001c0001t0023
 13 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(10): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*621A>T
c.*621A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 621 chr3 113810048
chr3:113810058
T
T
 G
G
 2 a0001c0001t0006
a0001c0001t0011
a0001c0001t0006
a0001c0001t0011
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp1
 3_prime_UTR_variant MODIFIER c.*631T>G
c.*631T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 631 chr3 113810058
chr3:113810103
C
C
 A
A
 1 a0001c0001t0014
a0001c0001t0014
 1 HG02486.hp1
HG02486.hp1
 3_prime_UTR_variant MODIFIER c.*676C>A
c.*676C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 676 chr3 113810103
chr3:113810135
C
C
 T
T
 1 a0001c0001t0023
a0001c0001t0023
 1 HG02896.hp2
HG02896.hp2
 3_prime_UTR_variant MODIFIER c.*708C>T
c.*708C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 708 chr3 113810135
chr3:113810138
G
G
 A
A
 1 a0001c0001t0015
a0001c0001t0015
 1 NA18970.hp1
NA18970.hp1
 3_prime_UTR_variant MODIFIER c.*711G>A
c.*711G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 711 chr3 113810138
chr3:113810167
C
C
 T
T
 1 a0001c0001t0013
a0001c0001t0013
 1 HG03225.hp1
HG03225.hp1
 3_prime_UTR_variant MODIFIER c.*740C>T
c.*740C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 740 chr3 113810167
chr3:113810190
G
G
 T
T
 1 a0001c0001t0023
a0001c0001t0023
 1 HG02896.hp2
HG02896.hp2
 3_prime_UTR_variant MODIFIER c.*763G>T
c.*763G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 763 chr3 113810190
chr3:113810202
C
C
 T
T
 1 a0001c0001t0003
a0001c0001t0003
 11 HG02698.hp2
HG02738.hp2
HG03942.hp1
others(8): Show 
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*775C>T
c.*775C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 775 chr3 113810202
chr3:113810230
C
C
 T
T
 1 a0001c0001t0008
a0001c0001t0008
 2 HG01891.hp1
HG02965.hp2
HG01891.hp1
HG02965.hp2
 3_prime_UTR_variant MODIFIER c.*803C>T
c.*803C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 803 chr3 113810230
chr3:113810285
G
G
 A
A
 1 a0001c0001t0016
a0001c0001t0016
 1 HG01358.hp1
HG01358.hp1
 3_prime_UTR_variant MODIFIER c.*858G>A
c.*858G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 858 chr3 113810285
chr3:113810301
C
C
 T
T
 1 a0001c0001t0021
a0001c0001t0021
 1 HG03579.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*874C>T
c.*874C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 874 chr3 113810301
chr3:113810428
C
C
 T
T
 1 a0001c0001t0012
a0001c0001t0012
 1 HG02683.hp1
HG02683.hp1
 3_prime_UTR_variant MODIFIER c.*1001C>T
c.*1001C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 1001 chr3 113810428
chr3:113810975
G
G
 A
A
 1 a0001c0001t0017
a0001c0001t0017
 1 HG00423.hp1
HG00423.hp1
 3_prime_UTR_variant MODIFIER c.*1548G>A
c.*1548G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 1548 chr3 113810975
chr3:113811239
G
G
 A
A
 1 a0001c0001t0018
a0001c0001t0018
 1 HG01255.hp2
HG01255.hp2
 3_prime_UTR_variant MODIFIER c.*1812G>A
c.*1812G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 1812 chr3 113811239
chr3:113811364
T
T
 C
C
 8 a0001c0001t0002
a0001c0001t0004
a0001c0001t0010
others(5): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0016
 117 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(114): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1937T>C
c.*1937T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 1937 chr3 113811364
chr3:113811406
T
T
 C
C
 1 a0001c0001t0007
a0001c0001t0007
 2 HG03098.hp2
NA20300.hp2
HG03098.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*1979T>C
c.*1979T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 1979 chr3 113811406
chr3:113811525
T
T
 C
C
 1 a0001c0001t0019
a0001c0001t0019
 1 HG01891.hp2
HG01891.hp2
 3_prime_UTR_variant MODIFIER c.*2098T>C
c.*2098T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 2098 chr3 113811525
chr3:113811609
G
G
 T
T
 1 a0001c0001t0020
a0001c0001t0020
 1 NA20905.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*2182G>T
c.*2182G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 2182 chr3 113811609
chr3:113811626
G
G
 T
T
 1 a0001c0001t0009
a0001c0001t0009
 2 HG01081.hp2
HG02895.hp2
HG01081.hp2
HG02895.hp2
 3_prime_UTR_variant MODIFIER c.*2199G>T
c.*2199G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 2199 chr3 113811626
chr3:113811941
G
G
 A
A
 1 a0001c0001t0005
a0001c0001t0005
 6 HG01069.hp1
HG01071.hp2
HG01433.hp2
others(3): Show 
HG01069.hp1
HG01071.hp2
HG01433.hp2
HG02273.hp1
NA18979.hp2
NA18994.hp2
 3_prime_UTR_variant MODIFIER c.*2514G>A
c.*2514G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 2514 chr3 113811941
chr3:113811947
A
A
 G
G
 1 a0001c0001t0016
a0001c0001t0016
 1 HG01358.hp1
HG01358.hp1
 3_prime_UTR_variant MODIFIER c.*2520A>G
c.*2520A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 15/15 2520 chr3 113811947

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
chr3:113747154
G
G
 A
A
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.-14+41G>A
c.-14+41G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113747154
chr3:113747270
C
C
 T
T
 5 a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
others(2): Show 
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0018g0285
 5 HG01106.hp2
HG01255.hp2
HG01358.hp2
others(2): Show 
HG01106.hp2
HG01255.hp2
HG01358.hp2
HG01361.hp2
HG02683.hp2
 intron_variant MODIFIER c.-14+157C>T
c.-14+157C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113747270
chr3:113747282
A
A
 G
G
 1 a0001c0001t0001g0284
a0001c0001t0001g0284
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.-14+169A>G
c.-14+169A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113747282
chr3:113747434
G
G
 A
A
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.-14+321G>A
c.-14+321G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113747434
chr3:113747453
A
A
 G
G
 1 a0001c0001t0014g0019
a0001c0001t0014g0019
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-14+340A>G
c.-14+340A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113747453
chr3:113747685
C
C
 T
T
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-14+572C>T
c.-14+572C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113747685
chr3:113747686
G
G
 C
C
 11 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(8): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0016g0027
a0001c0001t0021g0031
 11 HG01106.hp1
HG01358.hp1
HG02258.hp2
others(8): Show 
HG01106.hp1
HG01358.hp1
HG02258.hp2
HG02280.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03139.hp1
HG03579.hp1
NA19043.hp1
 intron_variant MODIFIER c.-14+573G>C
c.-14+573G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113747686
chr3:113747699
G
G
 A
A
 4 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(1): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
 4 HG02895.hp1
HG02897.hp2
HG03130.hp1
others(1): Show 
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.-14+586G>A
c.-14+586G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113747699
chr3:113748930
G
G
 A
A
 131 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(128): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
 143 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(140): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+1817G>A
c.-14+1817G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113748930
chr3:113748981
G
G
 A
A
 3 a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
 3 NA18959.hp1
NA18991.hp1
NA19011.hp1
NA18959.hp1
NA18991.hp1
NA19011.hp1
 intron_variant MODIFIER c.-14+1868G>A
c.-14+1868G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113748981
chr3:113749056
C
C
 G
G
 1 a0001c0001t0001g0280
a0001c0001t0001g0280
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.-14+1943C>G
c.-14+1943C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113749056
chr3:113749083
A
A
 G
G
 2 a0001c0001t0001g0017
a0001c0001t0019g0283
a0001c0001t0001g0017
a0001c0001t0019g0283
 3 HG01891.hp2
HG02976.hp2
HG03540.hp2
HG01891.hp2
HG02976.hp2
HG03540.hp2
 intron_variant MODIFIER c.-14+1970A>G
c.-14+1970A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113749083
chr3:113749172
C
C
 T
T
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.-14+2059C>T
c.-14+2059C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113749172
chr3:113749263
T
T
 TCA
TCA
 16 a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
others(13): Show 
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0008g0165
 16 HG00323.hp1
HG01081.hp1
HG01256.hp2
others(13): Show 
HG00323.hp1
HG01081.hp1
HG01256.hp2
HG01515.hp1
HG02071.hp2
HG02280.hp1
HG02922.hp1
HG02965.hp2
HG03139.hp1
NA18951.hp1
NA18993.hp1
NA19043.hp2
NA19067.hp2
NA19075.hp2
NA19081.hp2
NA20905.hp2
 intron_variant MODIFIER c.-14+2192_-14+2193d
others(4): Show 
c.-14+2192_-14+2193dupAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113749263
chr3:113749263
T
T
 TCACA
TCACA
 18 a0001c0001t0001g0017
a0001c0001t0001g0028
a0001c0001t0001g0141
others(15): Show 
a0001c0001t0001g0017
a0001c0001t0001g0028
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0004g0018
a0001c0001t0009g0154
a0001c0001t0009g0155
 19 HG00408.hp1
HG00609.hp1
HG01081.hp2
others(16): Show 
HG00408.hp1
HG00609.hp1
HG01081.hp2
HG01109.hp2
HG02080.hp2
HG02258.hp2
HG02615.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03540.hp2
NA18522.hp2
NA18956.hp2
NA18960.hp1
NA18991.hp2
NA19012.hp1
 intron_variant MODIFIER c.-14+2190_-14+2193d
others(6): Show 
c.-14+2190_-14+2193dupACAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113749263
chr3:113749263
T
T
 TCACACAC
others(3): Show 
TCACACACACA
 1 a0001c0001t0022g0035
a0001c0001t0022g0035
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-14+2184_-14+2193d
others(12): Show 
c.-14+2184_-14+2193dupACACACACAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113749263
chr3:113749263
TCA
TCA
 T
T
 124 a0001c0001t0001g0002
a0001c0001t0001g0013
a0001c0001t0001g0014
others(121): Show 
a0001c0001t0001g0002
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0020
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0001
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0005g0267
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0015g0237
a0001c0001t0018g0285
a0001c0001t0019g0283
a0001c0001t0020g0226
 137 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(134): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG01069.hp2
HG01074.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02300.hp2
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18944.hp1
NA18944.hp2
NA18951.hp2
NA18953.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18967.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp2
NA18994.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19075.hp1
NA19081.hp1
NA19085.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+2192_-14+2193d
others(4): Show 
c.-14+2192_-14+2193delAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113749263
chr3:113749263
TCACA
TCACA
 T
T
 26 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(23): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0002g0003
a0001c0001t0002g0008
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0011g0112
 29 HG00280.hp2
HG01255.hp1
HG01346.hp1
others(26): Show 
HG00280.hp2
HG01255.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG02135.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02809.hp2
HG03041.hp1
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG04204.hp1
NA18906.hp2
NA18950.hp2
NA18965.hp2
NA18966.hp2
NA18975.hp2
NA18995.hp2
NA19090.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-14+2190_-14+2193d
others(6): Show 
c.-14+2190_-14+2193delACAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113749263
chr3:113749263
TCACACA
TCACACA
 T
T
 23 a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0002g0009
others(20): Show 
a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0002g0009
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0004g0025
a0001c0001t0005g0016
 25 HG00642.hp1
HG01069.hp1
HG01071.hp2
others(22): Show 
HG00642.hp1
HG01069.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01993.hp1
HG02257.hp2
HG02698.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03130.hp2
HG03453.hp2
HG03942.hp1
HG04184.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp1
NA19066.hp2
 intron_variant MODIFIER c.-14+2188_-14+2193d
others(8): Show 
c.-14+2188_-14+2193delACACAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113749263
chr3:113749263
TCACACAC
others(1): Show 
TCACACACA
 T
T
 6 a0001c0001t0003g0136
a0001c0001t0004g0021
a0001c0001t0004g0022
others(3): Show 
a0001c0001t0003g0136
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0026
 6 HG02818.hp1
HG02895.hp1
HG02897.hp2
others(3): Show 
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA18966.hp1
NA19043.hp1
 intron_variant MODIFIER c.-14+2186_-14+2193d
others(10): Show 
c.-14+2186_-14+2193delACACACAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113749263
chr3:113749263
TCACACAC
others(3): Show 
TCACACACACA
 T
T
 7 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(4): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0016g0027
a0001c0001t0023g0279
 8 HG01358.hp1
HG01934.hp2
HG01952.hp1
others(5): Show 
HG01358.hp1
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG02896.hp2
NA19012.hp2
 intron_variant MODIFIER c.-14+2184_-14+2193d
others(12): Show 
c.-14+2184_-14+2193delACACACACAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113749263
chr3:113749534
A
A
 G
G
 1 a0001c0001t0017g0220
a0001c0001t0017g0220
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-14+2421A>G
c.-14+2421A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113749534
chr3:113750037
C
C
 T
T
 1 a0001c0001t0002g0100
a0001c0001t0002g0100
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.-14+2924C>T
c.-14+2924C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750037
chr3:113750065
C
C
 A
A
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-14+2952C>A
c.-14+2952C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750065
chr3:113750120
C
C
 T
T
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-14+3007C>T
c.-14+3007C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750120
chr3:113750121
G
G
 A
A
 1 a0001c0001t0002g0040
a0001c0001t0002g0040
 1 NA18997.hp2
NA18997.hp2
 intron_variant MODIFIER c.-14+3008G>A
c.-14+3008G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750121
chr3:113750128
T
T
 G
G
 2 a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0166
a0001c0001t0001g0167
 2 NA18977.hp2
NA19091.hp2
NA18977.hp2
NA19091.hp2
 intron_variant MODIFIER c.-14+3015T>G
c.-14+3015T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750128
chr3:113750684
A
A
 G
G
 1 a0001c0001t0001g0269
a0001c0001t0001g0269
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.-14+3571A>G
c.-14+3571A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750684
chr3:113750729
A
A
 C
C
 1 a0001c0001t0002g0099
a0001c0001t0002g0099
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.-14+3616A>C
c.-14+3616A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750729
chr3:113750736
T
T
 A
A
 2 a0001c0001t0001g0168
a0001c0001t0001g0221
a0001c0001t0001g0168
a0001c0001t0001g0221
 2 HG00642.hp2
HG01074.hp1
HG00642.hp2
HG01074.hp1
 intron_variant MODIFIER c.-14+3623T>A
c.-14+3623T>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750736
chr3:113750864
T
T
 C
C
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-14+3751T>C
c.-14+3751T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750864
chr3:113750986
A
A
 G
G
 1 a0001c0001t0002g0098
a0001c0001t0002g0098
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.-14+3873A>G
c.-14+3873A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113750986
chr3:113751011
T
T
 C
C
 1 a0001c0001t0002g0041
a0001c0001t0002g0041
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-14+3898T>C
c.-14+3898T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751011
chr3:113751289
C
C
 A
A
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-14+4176C>A
c.-14+4176C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751289
chr3:113751302
A
A
 C
C
 87 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(84): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
 95 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(92): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02258.hp1
HG02300.hp2
HG02486.hp2
HG02602.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03130.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+4189A>C
c.-14+4189A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751302
chr3:113751348
T
T
 G
G
 1 a0001c0001t0002g0041
a0001c0001t0002g0041
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-14+4235T>G
c.-14+4235T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751348
chr3:113751632
T
T
 A
A
 133 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(130): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0277
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
a0001c0001t0023g0279
 145 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(142): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+4519T>A
c.-14+4519T>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751632
chr3:113751805
C
C
 G
G
 1 a0001c0001t0023g0279
a0001c0001t0023g0279
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-14+4692C>G
c.-14+4692C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751805
chr3:113751905
A
A
 G
G
 3 a0001c0001t0001g0268
a0001c0001t0005g0016
a0001c0001t0005g0267
a0001c0001t0001g0268
a0001c0001t0005g0016
a0001c0001t0005g0267
 4 HG01069.hp1
HG01071.hp2
HG01433.hp1
others(1): Show 
HG01069.hp1
HG01071.hp2
HG01433.hp1
HG02273.hp1
 intron_variant MODIFIER c.-14+4792A>G
c.-14+4792A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751905
chr3:113751943
A
A
 G
G
 2 a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0009g0154
a0001c0001t0009g0155
 2 HG01081.hp2
HG02895.hp2
HG01081.hp2
HG02895.hp2
 intron_variant MODIFIER c.-14+4830A>G
c.-14+4830A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751943
chr3:113751978
A
A
 T
T
 1 a0001c0001t0002g0041
a0001c0001t0002g0041
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-14+4865A>T
c.-14+4865A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113751978
chr3:113752021
GTAT
GTAT
 G
G
 3 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
 3 NA18961.hp1
NA18980.hp1
NA18986.hp2
NA18961.hp1
NA18980.hp1
NA18986.hp2
 intron_variant MODIFIER c.-14+4915_-14+4917d
others(5): Show 
c.-14+4915_-14+4917delTAT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113752021
chr3:113752489
G
G
 A
A
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+5376G>A
c.-14+5376G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113752489
chr3:113752699
T
T
 C
C
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-14+5586T>C
c.-14+5586T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113752699
chr3:113752743
A
A
 G
G
 2 a0001c0001t0001g0266
a0001c0001t0002g0097
a0001c0001t0001g0266
a0001c0001t0002g0097
 2 HG00140.hp2
NA18998.hp2
HG00140.hp2
NA18998.hp2
 intron_variant MODIFIER c.-14+5630A>G
c.-14+5630A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113752743
chr3:113752839
C
C
 G
G
 2 a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0049
a0001c0001t0002g0050
 2 HG02486.hp2
HG02809.hp1
HG02486.hp2
HG02809.hp1
 intron_variant MODIFIER c.-14+5726C>G
c.-14+5726C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113752839
chr3:113752982
G
G
 T
T
 3 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
 3 NA18961.hp1
NA18980.hp1
NA18986.hp2
NA18961.hp1
NA18980.hp1
NA18986.hp2
 intron_variant MODIFIER c.-14+5869G>T
c.-14+5869G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113752982
chr3:113753445
T
T
 C
C
 109 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(106): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+6332T>C
c.-14+6332T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113753445
chr3:113753587
G
G
 A
A
 109 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(106): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+6474G>A
c.-14+6474G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113753587
chr3:113753669
T
T
 TCTGAAAG
others(350): Show 
TCTGAAAGGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTAAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG
ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC
GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG
GTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGAGAC
GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT
CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG
CGCCCGGC
 2 a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0218
a0001c0001t0001g0219
 2 HG02630.hp1
NA20129.hp2
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.-14+6570_-14+6571i
others(359): Show 
c.-14+6570_-14+6571insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTTTTAAGACGGAGTCTCGCTCTGTCGCCC
AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC
GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG
ACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTAG
TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC
TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA
GCCACCGCGCCCGGCCTGAAAGGATTTCT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113753669
chr3:113753691
G
G
 A
A
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+6578G>A
c.-14+6578G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113753691
chr3:113753693
C
C
 CT
CT
 110 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(107): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0276
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
 121 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(118): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+6597dupT
c.-14+6597dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113753693
chr3:113753807
C
C
 G
G
 1 a0001c0001t0002g0096
a0001c0001t0002g0096
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-14+6694C>G
c.-14+6694C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113753807
chr3:113754086
T
T
 A
A
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.-14+6973T>A
c.-14+6973T>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113754086
chr3:113754252
G
G
 C
C
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-14+7139G>C
c.-14+7139G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113754252
chr3:113754431
G
G
 A
A
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.-14+7318G>A
c.-14+7318G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113754431
chr3:113754714
A
A
 G
G
 2 a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0094
a0001c0001t0002g0095
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.-14+7601A>G
c.-14+7601A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113754714
chr3:113754907
C
C
 T
T
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+7794C>T
c.-14+7794C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113754907
chr3:113755307
G
G
 A
A
 133 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(130): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0277
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
a0001c0001t0023g0279
 145 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(142): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+8194G>A
c.-14+8194G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755307
chr3:113755322
A
A
 C
C
 3 a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0097
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0097
 3 HG00140.hp2
HG00323.hp2
HG02145.hp1
HG00140.hp2
HG00323.hp2
HG02145.hp1
 intron_variant MODIFIER c.-14+8209A>C
c.-14+8209A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755322
chr3:113755379
G
G
 A
A
 109 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(106): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+8266G>A
c.-14+8266G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755379
chr3:113755431
C
C
 CA
CA
 15 a0001c0001t0001g0141
a0001c0001t0001g0152
a0001c0001t0001g0156
others(12): Show 
a0001c0001t0001g0141
a0001c0001t0001g0152
a0001c0001t0001g0156
a0001c0001t0001g0166
a0001c0001t0001g0168
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0009g0154
a0001c0001t0022g0035
 15 HG00642.hp2
HG01074.hp1
HG01109.hp2
others(12): Show 
HG00642.hp2
HG01074.hp1
HG01109.hp2
HG01361.hp1
HG02071.hp1
HG02145.hp2
HG02738.hp1
HG02895.hp2
HG03942.hp2
NA18967.hp1
NA18975.hp1
NA18997.hp1
NA19067.hp1
NA19091.hp2
NA20905.hp2
 intron_variant MODIFIER c.-14+8338dupA
c.-14+8338dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113755431
chr3:113755431
CA
CA
 C
C
 10 a0001c0001t0002g0117
a0001c0001t0004g0018
a0001c0001t0006g0010
others(7): Show 
a0001c0001t0002g0117
a0001c0001t0004g0018
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0165
a0001c0001t0014g0019
 11 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(8): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02965.hp2
HG03098.hp2
HG04204.hp1
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.-14+8338delA
c.-14+8338delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113755431
chr3:113755455
G
G
 A
A
 2 a0001c0001t0001g0141
a0001c0001t0008g0165
a0001c0001t0001g0141
a0001c0001t0008g0165
 2 HG01109.hp2
HG02965.hp2
HG01109.hp2
HG02965.hp2
 intron_variant MODIFIER c.-14+8342G>A
c.-14+8342G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755455
chr3:113755487
G
G
 A
A
 1 a0001c0001t0001g0223
a0001c0001t0001g0223
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.-14+8374G>A
c.-14+8374G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755487
chr3:113755498
G
G
 A
A
 1 a0001c0001t0002g0117
a0001c0001t0002g0117
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.-14+8385G>A
c.-14+8385G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755498
chr3:113755512
G
G
 A
A
 87 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(84): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
 95 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(92): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02258.hp1
HG02300.hp2
HG02486.hp2
HG02602.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03130.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+8399G>A
c.-14+8399G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755512
chr3:113755647
T
T
 C
C
 1 a0001c0001t0001g0224
a0001c0001t0001g0224
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.-14+8534T>C
c.-14+8534T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755647
chr3:113755766
A
A
 G
G
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.-14+8653A>G
c.-14+8653A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113755766
chr3:113756019
A
A
 G
G
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+8906A>G
c.-14+8906A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113756019
chr3:113756206
T
T
 C
C
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-14+9093T>C
c.-14+9093T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113756206
chr3:113756475
TG
TG
 T
T
 109 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(106): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+9363delG
c.-14+9363delG
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113756475
chr3:113756964
C
C
 T
T
 2 a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0090
a0001c0001t0002g0091
 2 HG00408.hp2
NA18988.hp2
HG00408.hp2
NA18988.hp2
 intron_variant MODIFIER c.-14+9851C>T
c.-14+9851C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113756964
chr3:113756990
A
A
 G
G
 1 a0001c0001t0019g0283
a0001c0001t0019g0283
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.-14+9877A>G
c.-14+9877A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113756990
chr3:113757223
C
C
 T
T
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-14+10110C>T
c.-14+10110C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113757223
chr3:113757526
A
A
 C
C
 4 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(1): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0021g0031
 4 HG02258.hp2
HG02280.hp1
HG03139.hp1
others(1): Show 
HG02258.hp2
HG02280.hp1
HG03139.hp1
HG03579.hp1
 intron_variant MODIFIER c.-14+10413A>C
c.-14+10413A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113757526
chr3:113757883
C
C
 T
T
 102 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(99): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 113 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+10770C>T
c.-14+10770C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113757883
chr3:113757968
A
A
 G
G
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.-14+10855A>G
c.-14+10855A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113757968
chr3:113757977
C
C
 G
G
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-14+10864C>G
c.-14+10864C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113757977
chr3:113758144
A
A
 G
G
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-14+11031A>G
c.-14+11031A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113758144
chr3:113758331
A
A
 G
G
 1 a0001c0001t0001g0219
a0001c0001t0001g0219
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-14+11218A>G
c.-14+11218A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113758331
chr3:113758485
A
A
 AG
AG
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+11373dupG
c.-14+11373dupG
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113758485
chr3:113758503
G
G
 A
A
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-14+11390G>A
c.-14+11390G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113758503
chr3:113758572
C
C
 T
T
 1 a0001c0001t0023g0279
a0001c0001t0023g0279
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-14+11459C>T
c.-14+11459C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113758572
chr3:113758592
T
T
 C
C
 2 a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0218
a0001c0001t0001g0219
 2 HG02630.hp1
NA20129.hp2
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.-14+11479T>C
c.-14+11479T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113758592
chr3:113758678
G
G
 A
A
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-14+11565G>A
c.-14+11565G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113758678
chr3:113758880
A
A
 G
G
 2 a0001c0001t0001g0164
a0001c0001t0017g0220
a0001c0001t0001g0164
a0001c0001t0017g0220
 2 HG00423.hp1
HG02071.hp2
HG00423.hp1
HG02071.hp2
 intron_variant MODIFIER c.-14+11767A>G
c.-14+11767A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113758880
chr3:113759190
C
C
 T
T
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-14+12077C>T
c.-14+12077C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759190
chr3:113759287
G
G
 GT
GT
 15 a0001c0001t0001g0152
a0001c0001t0001g0162
a0001c0001t0001g0166
others(12): Show 
a0001c0001t0001g0152
a0001c0001t0001g0162
a0001c0001t0001g0166
a0001c0001t0001g0216
a0001c0001t0001g0219
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0275
a0001c0001t0001g0289
a0001c0001t0005g0217
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0022g0035
 15 HG01256.hp2
HG01358.hp1
HG01361.hp2
others(12): Show 
HG01256.hp2
HG01358.hp1
HG01361.hp2
HG02145.hp2
HG02486.hp1
HG02630.hp1
HG02738.hp1
NA18975.hp2
NA18979.hp2
NA18985.hp2
NA19003.hp2
NA19030.hp2
NA19075.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.-14+12189dupT
c.-14+12189dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113759287
chr3:113759287
G
G
 GTT
GTT
 88 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(85): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0090
a0001c0001t0002g0092
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 97 HG00323.hp2
HG00408.hp2
HG00423.hp2
others(94): Show 
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+12188_-14+1218
others(6): Show 
c.-14+12188_-14+12189dupTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113759287
chr3:113759287
G
G
 GTTT
GTTT
 20 a0001c0001t0001g0116
a0001c0001t0002g0007
a0001c0001t0002g0008
others(17): Show 
a0001c0001t0001g0116
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0043
a0001c0001t0002g0048
a0001c0001t0002g0056
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0097
a0001c0001t0002g0104
a0001c0001t0002g0135
a0001c0001t0008g0083
 22 HG00140.hp2
HG00280.hp1
HG01175.hp1
others(19): Show 
HG00140.hp2
HG00280.hp1
HG01175.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02145.hp1
HG02257.hp1
HG03669.hp1
NA18944.hp2
NA18956.hp1
NA18972.hp1
NA18981.hp1
NA18988.hp2
NA18999.hp1
NA19000.hp1
NA19006.hp2
NA19067.hp1
NA19090.hp1
 intron_variant MODIFIER c.-14+12187_-14+1218
others(7): Show 
c.-14+12187_-14+12189dupTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113759287
chr3:113759402
A
A
 G
G
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.-14+12289A>G
c.-14+12289A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759402
chr3:113759653
A
A
 G
G
 102 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(99): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 113 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+12540A>G
c.-14+12540A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759653
chr3:113759722
G
G
 A
A
 1 a0001c0001t0023g0279
a0001c0001t0023g0279
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-14+12609G>A
c.-14+12609G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759722
chr3:113759737
G
G
 A
A
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-14+12624G>A
c.-14+12624G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759737
chr3:113759783
G
G
 A
A
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.-14+12670G>A
c.-14+12670G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759783
chr3:113759908
C
C
 T
T
 12 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
 12 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-14+12795C>T
c.-14+12795C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759908
chr3:113759931
A
A
 G
G
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-14+12818A>G
c.-14+12818A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759931
chr3:113759936
C
C
 T
T
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.-14+12823C>T
c.-14+12823C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113759936
chr3:113760240
T
T
 G
G
 11 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(8): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
 11 HG02698.hp2
HG02738.hp2
HG03942.hp1
others(8): Show 
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-14+13127T>G
c.-14+13127T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760240
chr3:113760281
C
C
 T
T
 8 a0001c0001t0001g0172
a0001c0001t0001g0211
a0001c0001t0001g0212
others(5): Show 
a0001c0001t0001g0172
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0260
a0001c0001t0001g0284
 8 HG00438.hp1
HG00609.hp2
HG02165.hp1
others(5): Show 
HG00438.hp1
HG00609.hp2
HG02165.hp1
NA18962.hp2
NA18970.hp2
NA18983.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.-14+13168C>T
c.-14+13168C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760281
chr3:113760360
C
C
 G
G
 4 a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
 5 HG02559.hp1
HG02622.hp1
HG02922.hp2
others(2): Show 
HG02559.hp1
HG02622.hp1
HG02922.hp2
HG02965.hp1
HG03471.hp1
 intron_variant MODIFIER c.-14+13247C>G
c.-14+13247C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760360
chr3:113760448
G
G
 C
C
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-14+13335G>C
c.-14+13335G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760448
chr3:113760560
C
C
 G
G
 1 a0001c0001t0002g0004
a0001c0001t0002g0004
 2 HG02622.hp1
HG02965.hp1
HG02622.hp1
HG02965.hp1
 intron_variant MODIFIER c.-14+13447C>G
c.-14+13447C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760560
chr3:113760572
C
C
 CA
CA
 109 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(106): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+13465dupA
c.-14+13465dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113760572
chr3:113760643
G
G
 T
T
 3 a0001c0001t0001g0225
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0001g0225
a0001c0001t0009g0154
a0001c0001t0009g0155
 3 HG01081.hp2
HG02895.hp2
HG03540.hp1
HG01081.hp2
HG02895.hp2
HG03540.hp1
 intron_variant MODIFIER c.-14+13530G>T
c.-14+13530G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760643
chr3:113760753
A
A
 C
C
 1 a0001c0001t0023g0279
a0001c0001t0023g0279
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-14+13640A>C
c.-14+13640A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760753
chr3:113760893
T
T
 C
C
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+13780T>C
c.-14+13780T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760893
chr3:113760991
C
C
 T
T
 12 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
 12 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-14+13878C>T
c.-14+13878C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113760991
chr3:113761004
TTGCAGTG
others(4): Show 
TTGCAGTGAGCC
 T
T
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.-14+13893_-14+1390
others(15): Show 
c.-14+13893_-14+13903delGCAGTGAGCCT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113761004
chr3:113761042
G
G
 A
A
 1 a0001c0001t0002g0044
a0001c0001t0002g0044
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-14+13929G>A
c.-14+13929G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761042
chr3:113761083
A
A
 ACAT
ACAT
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+13971_-14+1397
others(7): Show 
c.-14+13971_-14+13973dupCAT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113761083
chr3:113761102
C
C
 T
T
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-14+13989C>T
c.-14+13989C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761102
chr3:113761108
T
T
 C
C
 1 a0001c0001t0020g0226
a0001c0001t0020g0226
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.-14+13995T>C
c.-14+13995T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761108
chr3:113761178
G
G
 A
A
 1 a0001c0001t0001g0211
a0001c0001t0001g0211
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.-14+14065G>A
c.-14+14065G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761178
chr3:113761322
A
A
 G
G
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.-14+14209A>G
c.-14+14209A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761322
chr3:113761371
A
A
 AT
AT
 8 a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0275
others(5): Show 
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0275
a0001c0001t0002g0041
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0007g0281
a0001c0001t0007g0282
 8 HG02738.hp1
HG02976.hp1
HG03098.hp2
others(5): Show 
HG02738.hp1
HG02976.hp1
HG03098.hp2
NA18956.hp2
NA18975.hp2
NA19060.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.-14+14271dupT
c.-14+14271dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113761371
chr3:113761413
C
C
 T
T
 1 a0001c0001t0002g0044
a0001c0001t0002g0044
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.-14+14300C>T
c.-14+14300C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761413
chr3:113761489
C
C
 T
T
 3 a0001c0001t0001g0028
a0001c0001t0001g0030
a0001c0001t0021g0031
a0001c0001t0001g0028
a0001c0001t0001g0030
a0001c0001t0021g0031
 3 HG02258.hp2
HG02280.hp1
HG03579.hp1
HG02258.hp2
HG02280.hp1
HG03579.hp1
 intron_variant MODIFIER c.-14+14376C>T
c.-14+14376C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761489
chr3:113761565
C
C
 T
T
 12 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0019g0283
 12 HG01891.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG01891.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-14+14452C>T
c.-14+14452C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761565
chr3:113761566
G
G
 A
A
 61 a0001c0001t0001g0002
a0001c0001t0001g0013
a0001c0001t0001g0142
others(58): Show 
a0001c0001t0001g0002
a0001c0001t0001g0013
a0001c0001t0001g0142
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0216
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0015g0237
a0001c0001t0018g0285
a0001c0001t0020g0226
 66 HG00280.hp2
HG00558.hp2
HG00597.hp2
others(63): Show 
HG00280.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00673.hp1
HG01069.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01255.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG02040.hp1
HG02056.hp2
HG02132.hp1
HG02165.hp2
HG02273.hp1
HG02602.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp1
HG03654.hp1
HG03688.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp2
NA18963.hp1
NA18967.hp1
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18981.hp2
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18993.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp2
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19065.hp1
NA19067.hp2
NA19075.hp1
NA19090.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-14+14453G>A
c.-14+14453G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761566
chr3:113761619
G
G
 A
A
 1 a0001c0001t0001g0227
a0001c0001t0001g0227
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.-14+14506G>A
c.-14+14506G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761619
chr3:113761636
C
C
 T
T
 137 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(134): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0277
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0021g0031
a0001c0001t0022g0035
a0001c0001t0023g0279
 149 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(146): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+14523C>T
c.-14+14523C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113761636
chr3:113761672
ATTGTGGT
others(409): Show 
ATTGTGGTGAGCCAAGATCGCGCCATTGCACTGCAGCCTGGGCAACAAGA
GCAAAACTCTGTCTCAAAAAAAAAAAAGTTTCTAAGTATTTTAAGCAATT
GCCTTTTTAAAGTAGTCATACAGTTTCTAGTTTGACTTCTTTTGAAGGTG
ATAATTTTCCTGCATGATTGCCTGAATTTTGAAAAAAATTGGTAAAGTTG
GCTGGGCACAGCAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAA
GCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATG
TAGAAACCCCAACTCTACTAAAAATACATAATTAGCTGGGCATGGAGGCA
CATGCCTGTAATCGCAGCTACTCTGGAGGCTGAAGCAGGAGAATTGCTTG
AACCCGGGAGGCAGAGG
 A
A
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-14+14843_-14+1525
others(4): Show 
c.-14+14843_-14+15258del
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113761672
chr3:113761736
C
C
 CA
CA
 113 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(110): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 124 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(121): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-14+14635dupA
c.-14+14635dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113761736
chr3:113762075
C
C
 T
T
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.-14+14962C>T
c.-14+14962C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762075
chr3:113762284
G
G
 C
C
 3 a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0251
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0251
 3 HG03669.hp2
NA18994.hp1
NA20752.hp1
HG03669.hp2
NA18994.hp1
NA20752.hp1
 intron_variant MODIFIER c.-14+15171G>C
c.-14+15171G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762284
chr3:113762516
C
C
 T
T
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-14+15403C>T
c.-14+15403C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762516
chr3:113762525
G
G
 A
A
 1 a0001c0001t0002g0061
a0001c0001t0002g0061
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.-14+15412G>A
c.-14+15412G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762525
chr3:113762536
C
C
 T
T
 1 a0001c0001t0003g0128
a0001c0001t0003g0128
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.-14+15423C>T
c.-14+15423C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762536
chr3:113762568
C
C
 CA
CA
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-14+15466dupA
c.-14+15466dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113762568
chr3:113762796
A
A
 G
G
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 2 HG01257.hp2
HG01258.hp2
HG01257.hp2
HG01258.hp2
 intron_variant MODIFIER c.-14+15683A>G
c.-14+15683A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762796
chr3:113762878
A
A
 G
G
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-14+15765A>G
c.-14+15765A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762878
chr3:113762909
A
A
 G
G
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-14+15796A>G
c.-14+15796A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762909
chr3:113762960
G
G
 A
A
 1 a0001c0001t0012g0062
a0001c0001t0012g0062
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.-13-15781G>A
c.-13-15781G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113762960
chr3:113763066
A
A
 C
C
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-15675A>C
c.-13-15675A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763066
chr3:113763098
C
C
 CT
CT
 12 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
 12 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-13-15633dupT
c.-13-15633dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113763098
chr3:113763130
A
A
 G
G
 120 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(117): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0289
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 132 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(129): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-15611A>G
c.-13-15611A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763130
chr3:113763157
A
A
 G
G
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-15584A>G
c.-13-15584A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763157
chr3:113763167
A
A
 G
G
 4 a0001c0001t0002g0006
a0001c0001t0002g0039
a0001c0001t0002g0079
others(1): Show 
a0001c0001t0002g0006
a0001c0001t0002g0039
a0001c0001t0002g0079
a0001c0001t0002g0080
 5 NA18962.hp1
NA18978.hp2
NA18979.hp1
others(2): Show 
NA18962.hp1
NA18978.hp2
NA18979.hp1
NA19075.hp2
NA19081.hp1
 intron_variant MODIFIER c.-13-15574A>G
c.-13-15574A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763167
chr3:113763178
C
C
 T
T
 1 a0001c0001t0002g0117
a0001c0001t0002g0117
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.-13-15563C>T
c.-13-15563C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763178
chr3:113763249
A
A
 G
G
 1 a0001c0001t0001g0250
a0001c0001t0001g0250
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.-13-15492A>G
c.-13-15492A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763249
chr3:113763313
T
T
 C
C
 1 a0001c0001t0001g0186
a0001c0001t0001g0186
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.-13-15428T>C
c.-13-15428T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763313
chr3:113763452
G
G
 A
A
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.-13-15289G>A
c.-13-15289G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763452
chr3:113763711
T
T
 G
G
 8 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 9 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(6): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA19012.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-15030T>G
c.-13-15030T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763711
chr3:113763724
T
T
 G
G
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.-13-15017T>G
c.-13-15017T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763724
chr3:113763846
G
G
 T
T
 1 a0001c0001t0001g0210
a0001c0001t0001g0210
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-13-14895G>T
c.-13-14895G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763846
chr3:113763854
T
T
 C
C
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-14887T>C
c.-13-14887T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763854
chr3:113763861
GT
GT
 G
G
 101 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(98): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 112 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(109): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-14877delT
c.-13-14877delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113763861
chr3:113763868
A
A
 G
G
 51 a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0152
others(48): Show 
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0152
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0221
a0001c0001t0001g0251
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0005g0196
a0001c0001t0017g0220
 53 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(50): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01074.hp1
HG01168.hp1
HG01175.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01934.hp1
HG01952.hp2
HG01993.hp2
HG02071.hp2
HG02148.hp2
HG02165.hp1
HG02523.hp2
HG02738.hp1
HG03239.hp1
HG03490.hp1
HG03654.hp2
HG03669.hp2
HG03942.hp2
HG04199.hp1
NA18953.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp1
NA18980.hp1
NA18983.hp1
NA18986.hp2
NA18988.hp1
NA18994.hp1
NA18995.hp2
NA19060.hp2
NA19065.hp2
NA19074.hp1
NA19081.hp2
NA19085.hp1
NA19091.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.-13-14873A>G
c.-13-14873A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763868
chr3:113763891
G
G
 A
A
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-13-14850G>A
c.-13-14850G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763891
chr3:113763934
C
C
 G
G
 1 a0001c0001t0002g0114
a0001c0001t0002g0114
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-13-14807C>G
c.-13-14807C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113763934
chr3:113764013
G
G
 T
T
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-14728G>T
c.-13-14728G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764013
chr3:113764096
G
G
 A
A
 1 a0001c0001t0013g0051
a0001c0001t0013g0051
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.-13-14645G>A
c.-13-14645G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764096
chr3:113764112
C
C
 T
T
 1 a0001c0001t0002g0113
a0001c0001t0002g0113
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.-13-14629C>T
c.-13-14629C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764112
chr3:113764278
T
T
 C
C
 3 a0001c0001t0001g0225
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0001g0225
a0001c0001t0009g0154
a0001c0001t0009g0155
 3 HG01081.hp2
HG02895.hp2
HG03540.hp1
HG01081.hp2
HG02895.hp2
HG03540.hp1
 intron_variant MODIFIER c.-13-14463T>C
c.-13-14463T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764278
chr3:113764305
C
C
 T
T
 1 a0001c0001t0002g0078
a0001c0001t0002g0078
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.-13-14436C>T
c.-13-14436C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764305
chr3:113764342
A
A
 G
G
 1 a0001c0001t0001g0209
a0001c0001t0001g0209
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.-13-14399A>G
c.-13-14399A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764342
chr3:113764395
C
C
 T
T
 2 a0001c0001t0001g0028
a0001c0001t0001g0030
a0001c0001t0001g0028
a0001c0001t0001g0030
 2 HG02258.hp2
HG02280.hp1
HG02258.hp2
HG02280.hp1
 intron_variant MODIFIER c.-13-14346C>T
c.-13-14346C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764395
chr3:113764538
GA
GA
 G
G
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-14199delA
c.-13-14199delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113764538
chr3:113764621
A
A
 G
G
 1 a0001c0001t0001g0288
a0001c0001t0001g0288
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.-13-14120A>G
c.-13-14120A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764621
chr3:113764761
T
T
 G
G
 3 a0001c0001t0002g0063
a0001c0001t0002g0084
a0001c0001t0008g0083
a0001c0001t0002g0063
a0001c0001t0002g0084
a0001c0001t0008g0083
 3 HG01891.hp1
HG02055.hp1
NA21309.hp2
HG01891.hp1
HG02055.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-13980T>G
c.-13-13980T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764761
chr3:113764791
G
G
 A
A
 1 a0001c0001t0001g0143
a0001c0001t0001g0143
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.-13-13950G>A
c.-13-13950G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764791
chr3:113764807
C
C
 T
T
 12 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
 12 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-13-13934C>T
c.-13-13934C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113764807
chr3:113764998
G
G
 GA
GA
 100 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(97): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0228
a0001c0001t0001g0261
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 111 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(108): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04184.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18959.hp1
NA18962.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-13726dupA
c.-13-13726dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113764998
chr3:113764998
G
G
 GAA
GAA
 7 a0001c0001t0001g0141
a0001c0001t0002g0032
a0001c0001t0002g0059
others(4): Show 
a0001c0001t0001g0141
a0001c0001t0002g0032
a0001c0001t0002g0059
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0085
a0001c0001t0002g0117
 7 HG01109.hp2
HG03239.hp2
HG04204.hp1
others(4): Show 
HG01109.hp2
HG03239.hp2
HG04204.hp1
NA18956.hp1
NA18963.hp2
NA18991.hp1
NA19067.hp1
 intron_variant MODIFIER c.-13-13727_-13-1372
others(6): Show 
c.-13-13727_-13-13726dupAA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113764998
chr3:113765132
G
G
 A
A
 102 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(99): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 113 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-13609G>A
c.-13-13609G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765132
chr3:113765340
C
C
 T
T
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-13401C>T
c.-13-13401C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765340
chr3:113765341
G
G
 A
A
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-13400G>A
c.-13-13400G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765341
chr3:113765350
C
C
 T
T
 1 a0001c0001t0023g0279
a0001c0001t0023g0279
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-13-13391C>T
c.-13-13391C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765350
chr3:113765375
C
C
 T
T
 13 a0001c0001t0001g0036
a0001c0001t0002g0003
a0001c0001t0002g0004
others(10): Show 
a0001c0001t0001g0036
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0013g0051
 16 HG02055.hp2
HG02257.hp1
HG02280.hp2
others(13): Show 
HG02055.hp2
HG02257.hp1
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.-13-13366C>T
c.-13-13366C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765375
chr3:113765404
A
A
 T
T
 7 a0001c0001t0001g0223
a0001c0001t0001g0245
a0001c0001t0001g0246
others(4): Show 
a0001c0001t0001g0223
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0266
 7 HG00558.hp2
HG00597.hp2
HG02056.hp2
others(4): Show 
HG00558.hp2
HG00597.hp2
HG02056.hp2
NA18747.hp2
NA18951.hp2
NA18993.hp2
NA18998.hp2
 intron_variant MODIFIER c.-13-13337A>T
c.-13-13337A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765404
chr3:113765420
T
T
 C
C
 1 a0001c0001t0001g0176
a0001c0001t0001g0176
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.-13-13321T>C
c.-13-13321T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765420
chr3:113765536
T
T
 C
C
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-13-13205T>C
c.-13-13205T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765536
chr3:113765574
C
C
 T
T
 1 a0001c0001t0002g0103
a0001c0001t0002g0103
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-13-13167C>T
c.-13-13167C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765574
chr3:113765593
A
A
 G
G
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-13148A>G
c.-13-13148A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765593
chr3:113765639
C
C
 T
T
 12 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
 12 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-13-13102C>T
c.-13-13102C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765639
chr3:113765644
G
G
 A
A
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.-13-13097G>A
c.-13-13097G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765644
chr3:113765762
C
C
 CA
CA
 109 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(106): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-12965dupA
c.-13-12965dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113765762
chr3:113765876
G
G
 A
A
 1 a0001c0001t0002g0066
a0001c0001t0002g0066
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.-13-12865G>A
c.-13-12865G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765876
chr3:113765882
G
G
 A
A
 1 a0001c0001t0001g0252
a0001c0001t0001g0252
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.-13-12859G>A
c.-13-12859G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765882
chr3:113765951
A
A
 T
T
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.-13-12790A>T
c.-13-12790A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113765951
chr3:113766028
C
C
 T
T
 1 a0001c0001t0001g0261
a0001c0001t0001g0261
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.-13-12713C>T
c.-13-12713C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766028
chr3:113766120
A
A
 G
G
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-12621A>G
c.-13-12621A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766120
chr3:113766272
ATC
ATC
 A
A
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-12459_-13-1245
others(6): Show 
c.-13-12459_-13-12458delCT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113766272
chr3:113766296
T
T
 C
C
 102 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(99): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 113 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-12445T>C
c.-13-12445T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766296
chr3:113766307
G
G
 A
A
 2 a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0166
a0001c0001t0001g0167
 2 NA18977.hp2
NA19091.hp2
NA18977.hp2
NA19091.hp2
 intron_variant MODIFIER c.-13-12434G>A
c.-13-12434G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766307
chr3:113766326
C
C
 T
T
 3 a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
 3 NA18967.hp2
NA19000.hp2
NA19066.hp2
NA18967.hp2
NA19000.hp2
NA19066.hp2
 intron_variant MODIFIER c.-13-12415C>T
c.-13-12415C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766326
chr3:113766477
T
T
 C
C
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-12264T>C
c.-13-12264T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766477
chr3:113766608
T
T
 C
C
 3 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
 3 NA18961.hp1
NA18980.hp1
NA18986.hp2
NA18961.hp1
NA18980.hp1
NA18986.hp2
 intron_variant MODIFIER c.-13-12133T>C
c.-13-12133T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766608
chr3:113766797
T
T
 G
G
 12 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
 12 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-13-11944T>G
c.-13-11944T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766797
chr3:113766925
C
C
 T
T
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.-13-11816C>T
c.-13-11816C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113766925
chr3:113767041
C
C
 G
G
 1 a0001c0001t0011g0112
a0001c0001t0011g0112
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.-13-11700C>G
c.-13-11700C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767041
chr3:113767086
C
C
 CT
CT
 30 a0001c0001t0001g0030
a0001c0001t0001g0116
a0001c0001t0001g0141
others(27): Show 
a0001c0001t0001g0030
a0001c0001t0001g0116
a0001c0001t0001g0141
a0001c0001t0001g0149
a0001c0001t0001g0152
a0001c0001t0001g0158
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0255
a0001c0001t0001g0261
a0001c0001t0002g0032
a0001c0001t0002g0048
a0001c0001t0002g0076
a0001c0001t0002g0096
a0001c0001t0002g0101
a0001c0001t0002g0111
a0001c0001t0002g0118
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0014g0019
a0001c0001t0019g0283
 30 HG00438.hp2
HG00621.hp1
HG01106.hp1
others(27): Show 
HG00438.hp2
HG00621.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01346.hp2
HG01891.hp2
HG02135.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02602.hp2
HG02738.hp1
HG02895.hp1
HG02897.hp2
HG03098.hp2
HG03453.hp2
NA18906.hp2
NA18972.hp2
NA18978.hp1
NA18991.hp1
NA19000.hp1
NA19012.hp1
NA19043.hp1
NA19067.hp2
NA19075.hp1
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.-13-11632dupT
c.-13-11632dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113767086
chr3:113767086
C
C
 CTT
CTT
 7 a0001c0001t0001g0137
a0001c0001t0004g0023
a0001c0001t0004g0026
others(4): Show 
a0001c0001t0001g0137
a0001c0001t0004g0023
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 8 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(5): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG02818.hp1
HG03130.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-11633_-13-1163
others(6): Show 
c.-13-11633_-13-11632dupTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113767086
chr3:113767086
CT
CT
 C
C
 12 a0001c0001t0001g0172
a0001c0001t0003g0119
a0001c0001t0003g0120
others(9): Show 
a0001c0001t0001g0172
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
 12 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18962.hp2
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19066.hp2
 intron_variant MODIFIER c.-13-11632delT
c.-13-11632delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113767086
chr3:113767153
G
G
 A
A
 3 a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0005g0196
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0005g0196
 3 HG01071.hp1
HG01433.hp2
HG04199.hp1
HG01071.hp1
HG01433.hp2
HG04199.hp1
 intron_variant MODIFIER c.-13-11588G>A
c.-13-11588G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767153
chr3:113767163
C
C
 T
T
 1 a0001c0001t0002g0041
a0001c0001t0002g0041
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-13-11578C>T
c.-13-11578C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767163
chr3:113767172
A
A
 G
G
 102 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(99): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 113 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-11569A>G
c.-13-11569A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767172
chr3:113767187
G
G
 T
T
 1 a0001c0001t0011g0112
a0001c0001t0011g0112
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.-13-11554G>T
c.-13-11554G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767187
chr3:113767212
G
G
 T
T
 7 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(4): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0016g0027
 7 HG01106.hp1
HG01358.hp1
HG02818.hp1
others(4): Show 
HG01106.hp1
HG01358.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.-13-11529G>T
c.-13-11529G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767212
chr3:113767216
C
C
 T
T
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-11525C>T
c.-13-11525C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767216
chr3:113767240
C
C
 T
T
 1 a0001c0001t0002g0041
a0001c0001t0002g0041
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-13-11501C>T
c.-13-11501C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767240
chr3:113767379
G
G
 A
A
 1 a0001c0001t0001g0269
a0001c0001t0001g0269
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.-13-11362G>A
c.-13-11362G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767379
chr3:113767691
G
G
 A
A
 8 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 9 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(6): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA19012.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-11050G>A
c.-13-11050G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767691
chr3:113767756
A
A
 G
G
 1 a0001c0001t0002g0057
a0001c0001t0002g0057
 1 NA18953.hp1
NA18953.hp1
 intron_variant MODIFIER c.-13-10985A>G
c.-13-10985A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767756
chr3:113767819
G
G
 T
T
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-10922G>T
c.-13-10922G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767819
chr3:113767934
G
G
 A
A
 1 a0001c0001t0022g0035
a0001c0001t0022g0035
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-13-10807G>A
c.-13-10807G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113767934
chr3:113768270
T
T
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.-13-10471T>G
c.-13-10471T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768270
chr3:113768374
T
T
 C
C
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-13-10367T>C
c.-13-10367T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768374
chr3:113768423
A
A
 G
G
 3 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
 3 NA18965.hp2
NA18966.hp2
NA19090.hp1
NA18965.hp2
NA18966.hp2
NA19090.hp1
 intron_variant MODIFIER c.-13-10318A>G
c.-13-10318A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768423
chr3:113768506
A
A
 C
C
 4 a0001c0001t0001g0011
a0001c0001t0001g0160
a0001c0001t0001g0241
others(1): Show 
a0001c0001t0001g0011
a0001c0001t0001g0160
a0001c0001t0001g0241
a0001c0001t0001g0255
 5 HG01168.hp2
HG01346.hp2
HG01515.hp1
others(2): Show 
HG01168.hp2
HG01346.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp2
 intron_variant MODIFIER c.-13-10235A>C
c.-13-10235A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768506
chr3:113768525
G
G
 A
A
 2 a0001c0001t0001g0157
a0001c0001t0001g0216
a0001c0001t0001g0157
a0001c0001t0001g0216
 2 NA19043.hp2
NA20300.hp1
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.-13-10216G>A
c.-13-10216G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768525
chr3:113768580
C
C
 T
T
 2 a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0218
a0001c0001t0001g0219
 2 HG02630.hp1
NA20129.hp2
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.-13-10161C>T
c.-13-10161C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768580
chr3:113768592
C
C
 CT
CT
 6 a0001c0001t0001g0110
a0001c0001t0002g0032
a0001c0001t0002g0046
others(3): Show 
a0001c0001t0001g0110
a0001c0001t0002g0032
a0001c0001t0002g0046
a0001c0001t0002g0080
a0001c0001t0007g0281
a0001c0001t0007g0282
 6 HG03098.hp2
NA18950.hp1
NA18965.hp2
others(3): Show 
HG03098.hp2
NA18950.hp1
NA18965.hp2
NA18978.hp2
NA18991.hp1
NA20300.hp2
 intron_variant MODIFIER c.-13-10128dupT
c.-13-10128dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113768592
chr3:113768592
CT
CT
 C
C
 152 a0001c0001t0001g0002
a0001c0001t0001g0012
a0001c0001t0001g0013
others(149): Show 
a0001c0001t0001g0002
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0015g0237
a0001c0001t0016g0027
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0020g0226
a0001c0001t0021g0031
 161 HG00280.hp2
HG00323.hp1
HG00408.hp1
others(158): Show 
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02132.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18747.hp2
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18953.hp2
NA18955.hp2
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19065.hp2
NA19066.hp2
NA19067.hp2
NA19074.hp1
NA19075.hp1
NA19081.hp2
NA19085.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.-13-10128delT
c.-13-10128delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113768592
chr3:113768630
C
C
 T
T
 1 a0001c0001t0003g0123
a0001c0001t0003g0123
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-13-10111C>T
c.-13-10111C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768630
chr3:113768670
A
A
 C
C
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-13-10071A>C
c.-13-10071A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768670
chr3:113768879
G
G
 A
A
 1 a0001c0001t0002g0039
a0001c0001t0002g0039
 1 NA19075.hp2
NA19075.hp2
 intron_variant MODIFIER c.-13-9862G>A
c.-13-9862G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768879
chr3:113768984
C
C
 T
T
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-9757C>T
c.-13-9757C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113768984
chr3:113769101
TA
TA
 T
T
 13 a0001c0001t0001g0036
a0001c0001t0002g0003
a0001c0001t0002g0004
others(10): Show 
a0001c0001t0001g0036
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0013g0051
 16 HG02055.hp2
HG02257.hp1
HG02280.hp2
others(13): Show 
HG02055.hp2
HG02257.hp1
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.-13-9637delA
c.-13-9637delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113769101
chr3:113769235
C
C
 T
T
 4 a0001c0001t0001g0020
a0001c0001t0001g0141
a0001c0001t0001g0278
others(1): Show 
a0001c0001t0001g0020
a0001c0001t0001g0141
a0001c0001t0001g0278
a0001c0001t0008g0165
 4 HG01109.hp2
HG02257.hp2
HG02965.hp2
others(1): Show 
HG01109.hp2
HG02257.hp2
HG02965.hp2
HG03098.hp1
 intron_variant MODIFIER c.-13-9506C>T
c.-13-9506C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113769235
chr3:113769437
T
T
 C
C
 1 a0001c0001t0002g0118
a0001c0001t0002g0118
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-13-9304T>C
c.-13-9304T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113769437
chr3:113769483
C
C
 T
T
 1 a0001c0001t0023g0279
a0001c0001t0023g0279
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-13-9258C>T
c.-13-9258C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113769483
chr3:113769852
A
A
 G
G
 111 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(108): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
 122 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(119): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-8889A>G
c.-13-8889A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113769852
chr3:113769883
G
G
 T
T
 7 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(4): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0016g0027
 7 HG01106.hp1
HG01358.hp1
HG02818.hp1
others(4): Show 
HG01106.hp1
HG01358.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.-13-8858G>T
c.-13-8858G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113769883
chr3:113769934
G
G
 A
A
 1 a0001c0001t0001g0240
a0001c0001t0001g0240
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.-13-8807G>A
c.-13-8807G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113769934
chr3:113770029
TTTTA
TTTTA
 T
T
 163 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(160): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0152
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0077
a0001c0001t0003g0119
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0015g0237
a0001c0001t0016g0027
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0020g0226
a0001c0001t0021g0031
a0001c0001t0023g0279
 173 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(170): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01934.hp1
HG01952.hp2
HG02004.hp1
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02132.hp1
HG02135.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18953.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19074.hp1
NA19075.hp1
NA19081.hp2
NA19085.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-13-8676_-13-8673d
others(6): Show 
c.-13-8676_-13-8673delATTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113770029
chr3:113770029
TTTTATTT
others(1): Show 
TTTTATTTA
 T
T
 106 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(103): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0019g0283
 117 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(114): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-8680_-13-8673d
others(10): Show 
c.-13-8680_-13-8673delATTTATTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113770029
chr3:113770216
T
T
 G
G
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.-13-8525T>G
c.-13-8525T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113770216
chr3:113770221
G
G
 C
C
 1 a0001c0001t0001g0184
a0001c0001t0001g0184
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.-13-8520G>C
c.-13-8520G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113770221
chr3:113770290
C
C
 G
G
 7 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(4): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0016g0027
 7 HG01106.hp1
HG01358.hp1
HG02818.hp1
others(4): Show 
HG01106.hp1
HG01358.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.-13-8451C>G
c.-13-8451C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113770290
chr3:113770377
GAAC
GAAC
 G
G
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-8358_-13-8356d
others(5): Show 
c.-13-8358_-13-8356delCAA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113770377
chr3:113770600
A
A
 T
T
 109 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(106): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-8141A>T
c.-13-8141A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113770600
chr3:113770613
A
A
 G
G
 51 a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0152
others(48): Show 
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0152
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0221
a0001c0001t0001g0251
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0005g0196
a0001c0001t0017g0220
 53 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(50): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01074.hp1
HG01168.hp1
HG01175.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01934.hp1
HG01952.hp2
HG01993.hp2
HG02071.hp2
HG02148.hp2
HG02165.hp1
HG02523.hp2
HG02738.hp1
HG03239.hp1
HG03490.hp1
HG03654.hp2
HG03669.hp2
HG03942.hp2
HG04199.hp1
NA18953.hp2
NA18961.hp1
NA18962.hp2
NA18965.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp1
NA18980.hp1
NA18983.hp1
NA18986.hp2
NA18988.hp1
NA18994.hp1
NA18995.hp2
NA19060.hp2
NA19065.hp2
NA19074.hp1
NA19081.hp2
NA19085.hp1
NA19091.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.-13-8128A>G
c.-13-8128A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113770613
chr3:113770988
G
G
 A
A
 1 a0001c0001t0001g0206
a0001c0001t0001g0206
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.-13-7753G>A
c.-13-7753G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113770988
chr3:113771069
T
T
 G
G
 1 a0001c0001t0018g0285
a0001c0001t0018g0285
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.-13-7672T>G
c.-13-7672T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113771069
chr3:113771071
G
G
 T
T
 1 a0001c0001t0003g0119
a0001c0001t0003g0119
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.-13-7670G>T
c.-13-7670G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113771071
chr3:113771092
C
C
 CA
CA
 11 a0001c0001t0002g0032
a0001c0001t0003g0119
a0001c0001t0004g0018
others(8): Show 
a0001c0001t0002g0032
a0001c0001t0003g0119
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0014g0019
a0001c0001t0016g0027
 11 HG01106.hp1
HG01358.hp1
HG02486.hp1
others(8): Show 
HG01106.hp1
HG01358.hp1
HG02486.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA18522.hp2
NA18991.hp1
NA19043.hp1
 intron_variant MODIFIER c.-13-7634dupA
c.-13-7634dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113771092
chr3:113771164
C
C
 G
G
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-7577C>G
c.-13-7577C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113771164
chr3:113771170
GTTTGT
GTTTGT
 G
G
 8 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 9 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(6): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA19012.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-7567_-13-7563d
others(7): Show 
c.-13-7567_-13-7563delGTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113771170
chr3:113771429
C
C
 CT
CT
 18 a0001c0001t0001g0141
a0001c0001t0001g0149
a0001c0001t0001g0150
others(15): Show 
a0001c0001t0001g0141
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0158
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0219
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0240
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0250
a0001c0001t0001g0254
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0271
a0001c0001t0001g0272
 18 HG01109.hp1
HG01109.hp2
HG02135.hp1
others(15): Show 
HG01109.hp1
HG01109.hp2
HG02135.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG03486.hp1
HG03654.hp1
NA18956.hp2
NA18967.hp1
NA18985.hp2
NA18993.hp2
NA19012.hp1
NA19030.hp2
NA19067.hp2
NA19090.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-13-7286dupT
c.-13-7286dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113771429
chr3:113771429
CT
CT
 C
C
 11 a0001c0001t0001g0245
a0001c0001t0001g0261
a0001c0001t0003g0121
others(8): Show 
a0001c0001t0001g0245
a0001c0001t0001g0261
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0136
a0001c0001t0014g0019
a0001c0001t0019g0283
a0001c0001t0023g0279
 11 HG01891.hp2
HG02486.hp1
HG02698.hp2
others(8): Show 
HG01891.hp2
HG02486.hp1
HG02698.hp2
HG02896.hp2
HG04184.hp1
NA18951.hp2
NA18966.hp1
NA18998.hp1
NA19003.hp1
NA19066.hp2
NA19075.hp1
 intron_variant MODIFIER c.-13-7286delT
c.-13-7286delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113771429
chr3:113771429
CTT
CTT
 C
C
 7 a0001c0001t0001g0137
a0001c0001t0004g0018
a0001c0001t0006g0010
others(4): Show 
a0001c0001t0001g0137
a0001c0001t0004g0018
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0007g0281
a0001c0001t0007g0282
 8 HG01934.hp2
HG02148.hp1
HG02273.hp2
others(5): Show 
HG01934.hp2
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA18522.hp2
NA19012.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-7287_-13-7286d
others(4): Show 
c.-13-7287_-13-7286delTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113771429
chr3:113771429
CTTTTTTT
CTTTTTTT
 C
C
 47 a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0152
others(44): Show 
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0152
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0195
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0221
a0001c0001t0001g0251
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0280
a0001c0001t0005g0196
a0001c0001t0017g0220
 49 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(46): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01074.hp1
HG01168.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01433.hp2
HG01934.hp1
HG01952.hp2
HG01993.hp2
HG02071.hp2
HG02148.hp2
HG02165.hp1
HG02523.hp2
HG02738.hp1
HG03239.hp1
HG03490.hp1
HG03654.hp2
HG03669.hp2
HG03942.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18977.hp2
NA18978.hp1
NA18980.hp1
NA18983.hp1
NA18986.hp2
NA18988.hp1
NA18994.hp1
NA18995.hp2
NA19060.hp2
NA19065.hp2
NA19074.hp1
NA19081.hp2
NA19085.hp1
NA19091.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.-13-7292_-13-7286d
others(9): Show 
c.-13-7292_-13-7286delTTTTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113771429
chr3:113771429
CTTTTTTT
others(2): Show 
CTTTTTTTTT
 C
C
 105 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(102): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 116 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.-13-7294_-13-7286d
others(11): Show 
c.-13-7294_-13-7286delTTTTTTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113771429
chr3:113771429
CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 2 a0001c0001t0002g0063
a0001c0001t0002g0130
a0001c0001t0002g0063
a0001c0001t0002g0130
 2 HG02897.hp1
NA21309.hp2
HG02897.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-7295_-13-7286d
others(12): Show 
c.-13-7295_-13-7286delTTTTTTTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113771429
chr3:113771455
T
T
 G
G
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-13-7286T>G
c.-13-7286T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113771455
chr3:113771530
C
C
 T
T
 3 a0001c0001t0001g0011
a0001c0001t0001g0160
a0001c0001t0001g0255
a0001c0001t0001g0011
a0001c0001t0001g0160
a0001c0001t0001g0255
 4 HG01346.hp2
HG01515.hp1
HG01516.hp1
others(1): Show 
HG01346.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp2
 intron_variant MODIFIER c.-13-7211C>T
c.-13-7211C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113771530
chr3:113771598
C
C
 T
T
 1 a0001c0001t0001g0274
a0001c0001t0001g0274
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.-13-7143C>T
c.-13-7143C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113771598
chr3:113771717
A
A
 G
G
 119 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(116): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 131 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(128): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-7024A>G
c.-13-7024A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113771717
chr3:113771727
G
G
 A
A
 3 a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
 3 NA18956.hp1
NA18981.hp1
NA18999.hp1
NA18956.hp1
NA18981.hp1
NA18999.hp1
 intron_variant MODIFIER c.-13-7014G>A
c.-13-7014G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113771727
chr3:113772282
A
A
 G
G
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-13-6459A>G
c.-13-6459A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113772282
chr3:113772691
G
G
 C
C
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.-13-6050G>C
c.-13-6050G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113772691
chr3:113772696
C
C
 G
G
 1 a0001c0001t0002g0074
a0001c0001t0002g0074
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.-13-6045C>G
c.-13-6045C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113772696
chr3:113772699
G
G
 T
T
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.-13-6042G>T
c.-13-6042G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113772699
chr3:113772727
C
C
 CA
CA
 11 a0001c0001t0001g0020
a0001c0001t0001g0150
a0001c0001t0001g0151
others(8): Show 
a0001c0001t0001g0020
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0199
a0001c0001t0001g0227
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0006g0140
 11 HG00597.hp2
HG01952.hp1
HG02056.hp1
others(8): Show 
HG00597.hp2
HG01952.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02135.hp1
HG02148.hp2
HG03098.hp1
NA18956.hp2
NA18959.hp2
NA19090.hp2
 intron_variant MODIFIER c.-13-5999dupA
c.-13-5999dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772727
chr3:113772727
CA
CA
 C
C
 98 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(95): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 109 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(106): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18993.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-5999delA
c.-13-5999delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772727
chr3:113772933
C
C
 CT
CT
 18 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
others(15): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0158
a0001c0001t0001g0205
a0001c0001t0001g0208
a0001c0001t0001g0228
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0244
a0001c0001t0001g0250
a0001c0001t0001g0254
a0001c0001t0001g0262
a0001c0001t0001g0268
a0001c0001t0001g0274
a0001c0001t0001g0287
a0001c0001t0001g0289
a0001c0001t0005g0196
 18 HG01361.hp2
HG01433.hp1
HG01433.hp2
others(15): Show 
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG02135.hp1
HG02602.hp2
HG02683.hp2
HG02738.hp1
HG04184.hp2
NA18953.hp2
NA18956.hp2
NA18972.hp2
NA18977.hp1
NA18995.hp2
NA19003.hp2
NA19005.hp2
NA19012.hp1
NA19067.hp2
NA19090.hp2
 intron_variant MODIFIER c.-13-5786dupT
c.-13-5786dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772933
chr3:113772933
C
C
 CTTT
CTTT
 83 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0116
others(80): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0075
a0001c0001t0002g0078
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0094
a0001c0001t0002g0096
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0013g0051
a0001c0001t0016g0027
 94 HG00280.hp1
HG00408.hp2
HG00558.hp1
others(91): Show 
HG00280.hp1
HG00408.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02071.hp1
HG02132.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp2
NA18993.hp1
NA18999.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-5788_-13-5786d
others(5): Show 
c.-13-5788_-13-5786dupTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772933
chr3:113772933
C
C
 CTTTT
CTTTT
 23 a0001c0001t0002g0040
a0001c0001t0002g0045
a0001c0001t0002g0048
others(20): Show 
a0001c0001t0002g0040
a0001c0001t0002g0045
a0001c0001t0002g0048
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0056
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0079
a0001c0001t0002g0089
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0100
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0135
a0001c0001t0012g0062
 23 HG00140.hp2
HG00323.hp2
HG00423.hp2
others(20): Show 
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG02055.hp2
HG02080.hp1
HG02135.hp2
HG02145.hp1
HG02486.hp2
HG02683.hp1
HG03486.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
NA18963.hp2
NA18985.hp1
NA18995.hp1
NA18997.hp2
NA19000.hp1
NA19081.hp1
 intron_variant MODIFIER c.-13-5789_-13-5786d
others(6): Show 
c.-13-5789_-13-5786dupTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772933
chr3:113772933
C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 10 a0001c0001t0001g0137
a0001c0001t0003g0120
a0001c0001t0003g0121
others(7): Show 
a0001c0001t0001g0137
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0140
 11 HG01934.hp2
HG01952.hp1
HG02273.hp2
others(8): Show 
HG01934.hp2
HG01952.hp1
HG02273.hp2
HG02300.hp1
HG02698.hp2
HG04184.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19012.hp2
NA19066.hp2
 intron_variant MODIFIER c.-13-5793_-13-5786d
others(10): Show 
c.-13-5793_-13-5786dupTTTTTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772933
chr3:113772933
C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 7 a0001c0001t0003g0119
a0001c0001t0003g0124
a0001c0001t0003g0127
others(4): Show 
a0001c0001t0003g0119
a0001c0001t0003g0124
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0006g0139
a0001c0001t0022g0035
 7 HG02145.hp2
HG02148.hp1
HG02738.hp2
others(4): Show 
HG02145.hp2
HG02148.hp1
HG02738.hp2
HG03942.hp1
NA18966.hp1
NA19000.hp2
NA19003.hp1
 intron_variant MODIFIER c.-13-5794_-13-5786d
others(11): Show 
c.-13-5794_-13-5786dupTTTTTTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772933
chr3:113772933
C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 2 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0007g0281
a0001c0001t0007g0282
 2 HG03098.hp2
NA20300.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-5800_-13-5786d
others(17): Show 
c.-13-5800_-13-5786dupTTTTTTTTTTTTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772933
chr3:113772933
C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 1 a0001c0001t0019g0283
a0001c0001t0019g0283
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.-13-5802_-13-5786d
others(19): Show 
c.-13-5802_-13-5786dupTTTTTTTTTTTTTTTTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113772933
chr3:113773012
A
A
 G
G
 1 a0001c0001t0015g0237
a0001c0001t0015g0237
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.-13-5729A>G
c.-13-5729A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113773012
chr3:113773051
CCT
CCT
 C
C
 12 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(9): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
 12 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(9): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.-13-5688_-13-5687d
others(4): Show 
c.-13-5688_-13-5687delTC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113773051
chr3:113773057
C
C
 A
A
 1 a0001c0001t0001g0212
a0001c0001t0001g0212
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.-13-5684C>A
c.-13-5684C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113773057
chr3:113773199
A
A
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.-13-5542A>G
c.-13-5542A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113773199
chr3:113773555
G
G
 T
T
 102 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(99): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 113 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(110): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-5186G>T
c.-13-5186G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113773555
chr3:113773932
G
G
 A
A
 2 a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0144
a0001c0001t0001g0153
 2 NA18960.hp1
NA18991.hp2
NA18960.hp1
NA18991.hp2
 intron_variant MODIFIER c.-13-4809G>A
c.-13-4809G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113773932
chr3:113773954
A
A
 G
G
 1 a0001c0001t0019g0283
a0001c0001t0019g0283
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.-13-4787A>G
c.-13-4787A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113773954
chr3:113774061
GA
GA
 G
G
 113 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(110): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0261
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0023g0279
 124 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(121): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-4668delA
c.-13-4668delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113774061
chr3:113774234
G
G
 C
C
 1 a0001c0001t0022g0035
a0001c0001t0022g0035
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-13-4507G>C
c.-13-4507G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113774234
chr3:113774453
A
A
 G
G
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.-13-4288A>G
c.-13-4288A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113774453
chr3:113774665
T
T
 C
C
 1 a0001c0001t0002g0063
a0001c0001t0002g0063
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-13-4076T>C
c.-13-4076T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113774665
chr3:113774812
C
C
 CA
CA
 7 a0001c0001t0001g0110
a0001c0001t0002g0089
a0001c0001t0004g0018
others(4): Show 
a0001c0001t0001g0110
a0001c0001t0002g0089
a0001c0001t0004g0018
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0014g0019
a0001c0001t0019g0283
 7 HG01891.hp2
HG02486.hp1
HG03098.hp2
others(4): Show 
HG01891.hp2
HG02486.hp1
HG03098.hp2
HG03669.hp1
NA18522.hp2
NA18965.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-3919dupA
c.-13-3919dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113774812
chr3:113774830
A
A
 G
G
 1 a0001c0001t0004g0022
a0001c0001t0004g0022
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.-13-3911A>G
c.-13-3911A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113774830
chr3:113774850
G
G
 A
A
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-3891G>A
c.-13-3891G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113774850
chr3:113775013
G
G
 A
A
 110 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(107): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 121 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(118): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-3728G>A
c.-13-3728G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113775013
chr3:113775229
CT
CT
 C
C
 12 a0001c0001t0001g0110
a0001c0001t0001g0147
a0001c0001t0001g0172
others(9): Show 
a0001c0001t0001g0110
a0001c0001t0001g0147
a0001c0001t0001g0172
a0001c0001t0002g0076
a0001c0001t0002g0081
a0001c0001t0002g0102
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 12 HG00438.hp2
HG01106.hp1
HG02280.hp2
others(9): Show 
HG00438.hp2
HG01106.hp1
HG02280.hp2
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03041.hp2
HG03130.hp1
NA18962.hp2
NA18965.hp2
NA19043.hp1
NA19091.hp1
 intron_variant MODIFIER c.-13-3495delT
c.-13-3495delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113775229
chr3:113775374
C
C
 T
T
 2 a0001c0001t0002g0052
a0001c0001t0002g0056
a0001c0001t0002g0052
a0001c0001t0002g0056
 2 HG02055.hp2
HG03486.hp2
HG02055.hp2
HG03486.hp2
 intron_variant MODIFIER c.-13-3367C>T
c.-13-3367C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113775374
chr3:113775411
G
G
 A
A
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-3330G>A
c.-13-3330G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113775411
chr3:113775574
T
T
 TG
TG
 120 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(117): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 132 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(129): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-3164dupG
c.-13-3164dupG
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 INFO_REALIGN_3_PRIME chr3 113775574
chr3:113775667
C
C
 T
T
 2 a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0009g0154
a0001c0001t0009g0155
 2 HG01081.hp2
HG02895.hp2
HG01081.hp2
HG02895.hp2
 intron_variant MODIFIER c.-13-3074C>T
c.-13-3074C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113775667
chr3:113775677
A
A
 T
T
 110 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(107): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0008g0083
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 121 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(118): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-3064A>T
c.-13-3064A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113775677
chr3:113775874
C
C
 T
T
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-2867C>T
c.-13-2867C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113775874
chr3:113775944
C
C
 T
T
 1 a0001c0001t0001g0189
a0001c0001t0001g0189
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.-13-2797C>T
c.-13-2797C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113775944
chr3:113776063
T
T
 C
C
 1 a0001c0001t0022g0035
a0001c0001t0022g0035
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.-13-2678T>C
c.-13-2678T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113776063
chr3:113776670
C
C
 A
A
 1 a0001c0001t0001g0014
a0001c0001t0001g0014
 2 HG03579.hp2
NA18522.hp1
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.-13-2071C>A
c.-13-2071C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113776670
chr3:113776801
C
C
 T
T
 116 a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
others(113): Show 
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0236
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0009g0154
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
a0001c0001t0023g0279
 126 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(123): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp2
HG01358.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.-13-1940C>T
c.-13-1940C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113776801
chr3:113777373
T
T
 C
C
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-13-1368T>C
c.-13-1368T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113777373
chr3:113777571
A
A
 C
C
 110 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(107): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
 121 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(118): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-1170A>C
c.-13-1170A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113777571
chr3:113777794
G
G
 T
T
 1 a0001c0001t0001g0235
a0001c0001t0001g0235
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-13-947G>T
c.-13-947G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113777794
chr3:113778136
G
G
 A
A
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.-13-605G>A
c.-13-605G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113778136
chr3:113778141
C
C
 A
A
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.-13-600C>A
c.-13-600C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113778141
chr3:113778539
C
C
 G
G
 87 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(84): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
 95 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(92): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02258.hp1
HG02300.hp2
HG02486.hp2
HG02602.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG03130.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-202C>G
c.-13-202C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113778539
chr3:113778608
A
A
 G
G
 1 a0001c0001t0001g0162
a0001c0001t0001g0162
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.-13-133A>G
c.-13-133A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113778608
chr3:113778660
A
A
 G
G
 101 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(98): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 112 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(109): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-13-81A>G
c.-13-81A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113778660
chr3:113778700
G
G
 A
A
 2 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0007g0281
a0001c0001t0007g0282
 2 HG03098.hp2
NA20300.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.-13-41G>A
c.-13-41G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 1/14 chr3 113778700
chr3:113778923
T
T
 G
G
 2 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0007g0281
a0001c0001t0007g0282
 2 HG03098.hp2
NA20300.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.82+88T>G
c.82+88T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113778923
chr3:113779067
T
T
 G
G
 101 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(98): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 112 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(109): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.82+232T>G
c.82+232T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113779067
chr3:113779478
A
A
 G
G
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.82+643A>G
c.82+643A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113779478
chr3:113779521
A
A
 G
G
 1 a0001c0001t0001g0204
a0001c0001t0001g0204
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.82+686A>G
c.82+686A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113779521
chr3:113779711
A
A
 G
G
 1 a0001c0001t0020g0226
a0001c0001t0020g0226
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.82+876A>G
c.82+876A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113779711
chr3:113779783
A
A
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.82+948A>T
c.82+948A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113779783
chr3:113779988
C
C
 T
T
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.83-1062C>T
c.83-1062C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113779988
chr3:113780477
A
A
 C
C
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.83-573A>C
c.83-573A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113780477
chr3:113780484
T
T
 C
C
 1 a0001c0001t0001g0252
a0001c0001t0001g0252
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.83-566T>C
c.83-566T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113780484
chr3:113780611
G
G
 A
A
 288 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(285): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0015g0237
a0001c0001t0016g0027
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0019g0283
a0001c0001t0020g0226
a0001c0001t0021g0031
a0001c0001t0022g0035
a0001c0001t0023g0279
 310 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(307): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.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.83-439G>A
c.83-439G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113780611
chr3:113780826
A
A
 G
G
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.83-224A>G
c.83-224A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113780826
chr3:113780851
T
T
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.83-199T>G
c.83-199T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113780851
chr3:113780886
A
A
 G
G
 110 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(107): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
 121 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(118): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.83-164A>G
c.83-164A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113780886
chr3:113780959
A
A
 G
G
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.83-91A>G
c.83-91A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113780959
chr3:113780976
T
T
 C
C
 8 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 9 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(6): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA19012.hp2
NA20300.hp2
 intron_variant MODIFIER c.83-74T>C
c.83-74T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 2/14 chr3 113780976
chr3:113781266
C
C
 A
A
 14 a0001c0001t0001g0277
a0001c0001t0003g0119
a0001c0001t0003g0120
others(11): Show 
a0001c0001t0001g0277
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
a0001c0001t0023g0279
 14 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(11): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.211+88C>A
c.211+88C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113781266
chr3:113781283
C
C
 A
A
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.211+105C>A
c.211+105C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113781283
chr3:113781432
G
G
 A
A
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.211+254G>A
c.211+254G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113781432
chr3:113781488
A
A
 T
T
 3 a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
 3 HG00642.hp1
HG01074.hp2
HG01099.hp2
HG00642.hp1
HG01074.hp2
HG01099.hp2
 intron_variant MODIFIER c.211+310A>T
c.211+310A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113781488
chr3:113781539
G
G
 A
A
 1 a0001c0001t0002g0058
a0001c0001t0002g0058
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.211+361G>A
c.211+361G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113781539
chr3:113781605
G
G
 A
A
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.211+427G>A
c.211+427G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113781605
chr3:113781808
T
T
 C
C
 3 a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0273
a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0273
 3 HG00323.hp1
HG01361.hp1
HG03239.hp1
HG00323.hp1
HG01361.hp1
HG03239.hp1
 intron_variant MODIFIER c.211+630T>C
c.211+630T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113781808
chr3:113782132
C
C
 T
T
 1 a0001c0001t0002g0072
a0001c0001t0002g0072
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.211+954C>T
c.211+954C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782132
chr3:113782213
T
T
 A
A
 13 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
a0001c0001t0023g0279
 13 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(10): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.211+1035T>A
c.211+1035T>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782213
chr3:113782241
T
T
 C
C
 1 a0001c0001t0011g0112
a0001c0001t0011g0112
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.211+1063T>C
c.211+1063T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782241
chr3:113782415
C
C
 A
A
 1 a0001c0001t0002g0041
a0001c0001t0002g0041
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.211+1237C>A
c.211+1237C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782415
chr3:113782524
T
T
 TTC
TTC
 47 a0001c0001t0001g0153
a0001c0001t0002g0008
a0001c0001t0002g0009
others(44): Show 
a0001c0001t0001g0153
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0038
a0001c0001t0002g0042
a0001c0001t0002g0047
a0001c0001t0002g0049
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0100
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0113
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0012g0062
 49 HG00140.hp2
HG00323.hp2
HG00423.hp2
others(46): Show 
HG00140.hp2
HG00323.hp2
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02300.hp2
HG02602.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG03239.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18747.hp1
NA18953.hp1
NA18959.hp1
NA18972.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA19007.hp2
NA19011.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19085.hp2
NA20752.hp2
 intron_variant MODIFIER c.211+1364_211+1365d
others(4): Show 
c.211+1364_211+1365dupCT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 INFO_REALIGN_3_PRIME chr3 113782524
chr3:113782524
TTC
TTC
 T
T
 4 a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
others(1): Show 
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 5 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(2): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
 intron_variant MODIFIER c.211+1364_211+1365d
others(4): Show 
c.211+1364_211+1365delCT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 INFO_REALIGN_3_PRIME chr3 113782524
chr3:113782524
TTCTC
TTCTC
 T
T
 4 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
others(1): Show 
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0269
 4 NA18961.hp1
NA18961.hp2
NA18980.hp1
others(1): Show 
NA18961.hp1
NA18961.hp2
NA18980.hp1
NA18986.hp2
 intron_variant MODIFIER c.211+1362_211+1365d
others(6): Show 
c.211+1362_211+1365delCTCT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 INFO_REALIGN_3_PRIME chr3 113782524
chr3:113782540
C
C
 A
A
 2 a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0009g0154
a0001c0001t0009g0155
 2 HG01081.hp2
HG02895.hp2
HG01081.hp2
HG02895.hp2
 intron_variant MODIFIER c.211+1362C>A
c.211+1362C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782540
chr3:113782542
C
C
 A
A
 18 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(15): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0146
a0001c0001t0001g0198
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0238
a0001c0001t0001g0271
a0001c0001t0002g0084
a0001c0001t0002g0098
a0001c0001t0003g0124
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0021g0031
 18 HG01081.hp2
HG01993.hp2
HG02055.hp1
others(15): Show 
HG01081.hp2
HG01993.hp2
HG02055.hp1
HG02258.hp2
HG02280.hp1
HG02818.hp2
HG02895.hp2
HG03139.hp1
HG03540.hp1
HG03579.hp1
NA18955.hp2
NA18963.hp1
NA18971.hp2
NA18986.hp1
NA19003.hp1
NA19005.hp2
NA19006.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.211+1364C>A
c.211+1364C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782542
chr3:113782542
C
C
 CTCTATAT
others(51): Show 
CTCTATATATATATACATGTGTATATATATATGTATATATATACACATAT
ATATATATA
 1 a0001c0001t0002g0103
a0001c0001t0002g0103
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.211+1365_211+1366i
others(60): Show 
c.211+1365_211+1366insCTATATATATATACATGTGTATATATAT
ATGTATATATATACACATATATATATATAT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 INFO_REALIGN_3_PRIME chr3 113782542
chr3:113782544
A
A
 C
C
 30 a0001c0001t0001g0142
a0001c0001t0001g0156
a0001c0001t0001g0176
others(27): Show 
a0001c0001t0001g0142
a0001c0001t0001g0156
a0001c0001t0001g0176
a0001c0001t0001g0194
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0004
a0001c0001t0002g0041
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0101
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0023
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0019g0283
 31 HG00438.hp1
HG00609.hp2
HG01106.hp1
others(28): Show 
HG00438.hp1
HG00609.hp2
HG01106.hp1
HG01891.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp2
HG02818.hp1
HG02965.hp1
HG02976.hp1
HG03130.hp1
HG03453.hp2
HG03471.hp1
HG03942.hp1
HG04184.hp1
HG04204.hp1
NA18906.hp2
NA18966.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp1
NA18980.hp2
NA19000.hp2
NA19060.hp2
NA19074.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.211+1366A>C
c.211+1366A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782544
chr3:113782545
T
T
 C
C
 1 a0001c0001t0002g0103
a0001c0001t0002g0103
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.211+1367T>C
c.211+1367T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782545
chr3:113782546
A
A
 C
C
 2 a0001c0001t0002g0101
a0001c0001t0003g0136
a0001c0001t0002g0101
a0001c0001t0003g0136
 2 NA18906.hp2
NA18966.hp1
NA18906.hp2
NA18966.hp1
 intron_variant MODIFIER c.211+1368A>C
c.211+1368A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782546
chr3:113782552
A
A
 G
G
 4 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(1): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0021g0031
 4 HG02258.hp2
HG02280.hp1
HG03139.hp1
others(1): Show 
HG02258.hp2
HG02280.hp1
HG03139.hp1
HG03579.hp1
 intron_variant MODIFIER c.211+1374A>G
c.211+1374A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782552
chr3:113782557
C
C
 T
T
 1 a0001c0001t0001g0280
a0001c0001t0001g0280
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.211+1379C>T
c.211+1379C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782557
chr3:113782561
T
T
 TATATATA
others(19): Show 
TATATATATATATGTATATATATACAC
 2 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0007g0281
a0001c0001t0007g0282
 2 HG03098.hp2
NA20300.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.211+1383_211+1384i
others(28): Show 
c.211+1383_211+1384insATATATATATATGTATATATATACAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782561
chr3:113782561
T
T
 TATATATA
others(45): Show 
TATATATATATATGTATATATATACACGTATATATATATGTATATATATA
CAC
 1 a0001c0001t0019g0283
a0001c0001t0019g0283
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.211+1383_211+1384i
others(54): Show 
c.211+1383_211+1384insATATATATATATGTATATATATACACGT
ATATATATATGTATATATATACAC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782561
chr3:113782564
A
A
 G
G
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.211+1386A>G
c.211+1386A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782564
chr3:113782573
C
C
 T
T
 135 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(132): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0001g0277
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0021g0031
a0001c0001t0022g0035
a0001c0001t0023g0279
 147 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(144): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.211+1395C>T
c.211+1395C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782573
chr3:113782587
C
C
 CATAT
CATAT
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.211+1421_211+1424d
others(6): Show 
c.211+1421_211+1424dupTATA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 INFO_REALIGN_3_PRIME chr3 113782587
chr3:113782590
A
A
 G
G
 2 a0001c0001t0001g0187
a0001c0001t0001g0280
a0001c0001t0001g0187
a0001c0001t0001g0280
 2 HG01168.hp1
HG03453.hp1
HG01168.hp1
HG03453.hp1
 intron_variant MODIFIER c.211+1412A>G
c.211+1412A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782590
chr3:113782591
T
T
 TAC
TAC
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.211+1414_211+1415i
others(4): Show 
c.211+1414_211+1415insCA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 INFO_REALIGN_3_PRIME chr3 113782591
chr3:113782601
T
T
 C
C
 1 a0001c0001t0001g0260
a0001c0001t0001g0260
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.211+1423T>C
c.211+1423T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782601
chr3:113782615
G
G
 T
T
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.211+1437G>T
c.211+1437G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782615
chr3:113782627
G
G
 A
A
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.211+1449G>A
c.211+1449G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782627
chr3:113782654
C
C
 T
T
 4 a0001c0001t0002g0008
a0001c0001t0002g0106
a0001c0001t0002g0107
others(1): Show 
a0001c0001t0002g0008
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0115
 5 HG01346.hp1
HG01515.hp2
HG01517.hp1
others(2): Show 
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG02602.hp1
NA20752.hp2
 intron_variant MODIFIER c.211+1476C>T
c.211+1476C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782654
chr3:113782769
C
C
 T
T
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.212-1455C>T
c.212-1455C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782769
chr3:113782784
G
G
 A
A
 1 a0001c0001t0005g0196
a0001c0001t0005g0196
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.212-1440G>A
c.212-1440G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782784
chr3:113782932
A
A
 C
C
 13 a0001c0001t0001g0158
a0001c0001t0001g0180
a0001c0001t0001g0182
others(10): Show 
a0001c0001t0001g0158
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0234
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0268
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0217
a0001c0001t0005g0267
 14 HG00673.hp1
HG01069.hp1
HG01071.hp2
others(11): Show 
HG00673.hp1
HG01069.hp1
HG01071.hp2
HG01433.hp1
HG02273.hp1
NA18612.hp2
NA18944.hp1
NA18979.hp2
NA18986.hp1
NA18994.hp2
NA19003.hp2
NA19006.hp1
NA19067.hp2
NA19075.hp1
 intron_variant MODIFIER c.212-1292A>C
c.212-1292A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782932
chr3:113782939
T
T
 C
C
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 2 HG01516.hp1
HG01517.hp2
HG01516.hp1
HG01517.hp2
 intron_variant MODIFIER c.212-1285T>C
c.212-1285T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113782939
chr3:113783427
T
T
 C
C
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.212-797T>C
c.212-797T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113783427
chr3:113783478
G
G
 A
A
 4 a0001c0001t0002g0008
a0001c0001t0002g0106
a0001c0001t0002g0107
others(1): Show 
a0001c0001t0002g0008
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0115
 5 HG01346.hp1
HG01515.hp2
HG01517.hp1
others(2): Show 
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG02602.hp1
NA20752.hp2
 intron_variant MODIFIER c.212-746G>A
c.212-746G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113783478
chr3:113783575
T
T
 G
G
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.212-649T>G
c.212-649T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113783575
chr3:113783599
G
G
 A
A
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.212-625G>A
c.212-625G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113783599
chr3:113783599
G
G
 T
T
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.212-625G>T
c.212-625G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113783599
chr3:113783620
G
G
 A
A
 13 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
a0001c0001t0023g0279
 13 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(10): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.212-604G>A
c.212-604G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113783620
chr3:113783804
G
G
 A
A
 131 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(128): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
a0001c0001t0023g0279
 143 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(140): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.212-420G>A
c.212-420G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113783804
chr3:113783985
C
C
 T
T
 1 a0001c0001t0022g0035
a0001c0001t0022g0035
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.212-239C>T
c.212-239C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 3/14 chr3 113783985
chr3:113784507
A
A
 G
G
 118 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(115): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 130 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(127): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.426+69A>G
c.426+69A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 4/14 chr3 113784507
chr3:113784545
G
G
 T
T
 1 a0001c0001t0019g0283
a0001c0001t0019g0283
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.426+107G>T
c.426+107G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 4/14 chr3 113784545
chr3:113784565
A
A
 G
G
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.426+127A>G
c.426+127A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 4/14 chr3 113784565
chr3:113785011
G
G
 T
T
 2 a0001c0001t0002g0005
a0001c0001t0010g0005
a0001c0001t0002g0005
a0001c0001t0010g0005
 2 HG03225.hp2
NA20129.hp1
HG03225.hp2
NA20129.hp1
 intron_variant MODIFIER c.564+178G>T
c.564+178G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785011
chr3:113785163
C
C
 T
T
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.564+330C>T
c.564+330C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785163
chr3:113785180
G
G
 A
A
 1 a0001c0001t0001g0275
a0001c0001t0001g0275
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.564+347G>A
c.564+347G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785180
chr3:113785309
G
G
 A
A
 1 a0001c0001t0002g0073
a0001c0001t0002g0073
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.564+476G>A
c.564+476G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785309
chr3:113785491
C
C
 G
G
 1 a0001c0001t0001g0234
a0001c0001t0001g0234
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.564+658C>G
c.564+658C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785491
chr3:113785506
C
C
 CT
CT
 68 a0001c0001t0001g0002
a0001c0001t0001g0013
a0001c0001t0001g0142
others(65): Show 
a0001c0001t0001g0002
a0001c0001t0001g0013
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0167
a0001c0001t0001g0171
a0001c0001t0001g0173
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0203
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0262
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0272
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0003g0126
a0001c0001t0003g0128
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0015g0237
a0001c0001t0018g0285
a0001c0001t0020g0226
 74 HG00280.hp2
HG00558.hp2
HG00597.hp2
others(71): Show 
HG00280.hp2
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00673.hp1
HG01069.hp1
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01255.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02056.hp2
HG02132.hp1
HG02148.hp1
HG02165.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp2
NA18747.hp2
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18981.hp2
NA18984.hp2
NA18993.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp2
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp2
NA19065.hp1
NA19067.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.564+693dupT
c.564+693dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 INFO_REALIGN_3_PRIME chr3 113785506
chr3:113785506
CT
CT
 C
C
 105 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(102): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0147
a0001c0001t0001g0153
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0221
a0001c0001t0001g0273
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0004g0025
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
a0001c0001t0019g0283
 116 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.564+693delT
c.564+693delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 INFO_REALIGN_3_PRIME chr3 113785506
chr3:113785511
T
T
 C
C
 2 a0001c0001t0001g0191
a0001c0001t0001g0253
a0001c0001t0001g0191
a0001c0001t0001g0253
 2 HG02056.hp1
HG02523.hp1
HG02056.hp1
HG02523.hp1
 intron_variant MODIFIER c.564+678T>C
c.564+678T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785511
chr3:113785682
T
T
 C
C
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.565-550T>C
c.565-550T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785682
chr3:113785730
G
G
 A
A
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.565-502G>A
c.565-502G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785730
chr3:113785737
C
C
 T
T
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.565-495C>T
c.565-495C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785737
chr3:113785846
T
T
 C
C
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.565-386T>C
c.565-386T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785846
chr3:113785864
C
C
 CT
CT
 8 a0001c0001t0001g0159
a0001c0001t0001g0174
a0001c0001t0002g0044
others(5): Show 
a0001c0001t0001g0159
a0001c0001t0001g0174
a0001c0001t0002g0044
a0001c0001t0002g0129
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
 8 HG01081.hp1
HG01261.hp2
HG01361.hp1
others(5): Show 
HG01081.hp1
HG01261.hp2
HG01361.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG03130.hp2
NA19043.hp1
 intron_variant MODIFIER c.565-351dupT
c.565-351dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 INFO_REALIGN_3_PRIME chr3 113785864
chr3:113785864
CT
CT
 C
C
 20 a0001c0001t0001g0173
a0001c0001t0001g0200
a0001c0001t0001g0231
others(17): Show 
a0001c0001t0001g0173
a0001c0001t0001g0200
a0001c0001t0001g0231
a0001c0001t0001g0277
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0022g0035
a0001c0001t0023g0279
 20 HG01358.hp1
HG02145.hp2
HG02486.hp1
others(17): Show 
HG01358.hp1
HG02145.hp2
HG02486.hp1
HG02698.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp2
HG03490.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp2
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.565-351delT
c.565-351delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 INFO_REALIGN_3_PRIME chr3 113785864
chr3:113785864
CTT
CTT
 C
C
 8 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 9 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(6): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA19012.hp2
NA20300.hp2
 intron_variant MODIFIER c.565-352_565-351del
others(2): Show 
c.565-352_565-351delTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 INFO_REALIGN_3_PRIME chr3 113785864
chr3:113785882
G
G
 T
T
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.565-350G>T
c.565-350G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 chr3 113785882
chr3:113786057
T
T
 TA
TA
 11 a0001c0001t0001g0137
a0001c0001t0001g0169
a0001c0001t0001g0171
others(8): Show 
a0001c0001t0001g0137
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0269
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0014g0019
 12 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(9): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG03098.hp2
NA18961.hp1
NA18961.hp2
NA18980.hp1
NA19012.hp2
NA20300.hp2
 intron_variant MODIFIER c.565-161dupA
c.565-161dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 INFO_REALIGN_3_PRIME chr3 113786057
chr3:113786057
TA
TA
 T
T
 23 a0001c0001t0001g0160
a0001c0001t0001g0206
a0001c0001t0001g0244
others(20): Show 
a0001c0001t0001g0160
a0001c0001t0001g0206
a0001c0001t0001g0244
a0001c0001t0001g0262
a0001c0001t0001g0277
a0001c0001t0002g0039
a0001c0001t0002g0073
a0001c0001t0002g0084
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0016g0027
a0001c0001t0020g0226
a0001c0001t0022g0035
a0001c0001t0023g0279
 23 HG01175.hp2
HG01358.hp1
HG01515.hp1
others(20): Show 
HG01175.hp2
HG01358.hp1
HG01515.hp1
HG02055.hp1
HG02080.hp1
HG02145.hp2
HG02602.hp2
HG02698.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19066.hp2
NA19075.hp2
NA20905.hp1
 intron_variant MODIFIER c.565-161delA
c.565-161delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 5/14 INFO_REALIGN_3_PRIME chr3 113786057
chr3:113786406
G
G
 A
A
 1 a0001c0001t0002g0041
a0001c0001t0002g0041
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.716+23G>A
c.716+23G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113786406
chr3:113786453
A
A
 G
G
 1 a0001c0001t0001g0141
a0001c0001t0001g0141
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.716+70A>G
c.716+70A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113786453
chr3:113786540
A
A
 C
C
 1 a0001c0001t0001g0247
a0001c0001t0001g0247
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.716+157A>C
c.716+157A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113786540
chr3:113786634
GCTGAAGA
others(84): Show 
GCTGAAGAAAATCTGTACCAAAACATTTACTTTTTTCATGGTTGCCCACA
GAAAGCATTATTTCTGAAACTTTTCTGGAAAAATTAAATTTT
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.716+276_716+366del
others(91): Show 
c.716+276_716+366delTTTACTTTTTTCATGGTTGCCCACAGAAAG
CATTATTTCTGAAACTTTTCTGGAAAAATTAAATTTTCTGAAGAAAATCT
GTACCAAAACA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 INFO_REALIGN_3_PRIME chr3 113786634
chr3:113786995
A
A
 G
G
 1 a0001c0001t0001g0146
a0001c0001t0001g0146
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.716+612A>G
c.716+612A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113786995
chr3:113787075
C
C
 T
T
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.716+692C>T
c.716+692C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113787075
chr3:113787307
TG
TG
 T
T
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.716+927delG
c.716+927delG
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 INFO_REALIGN_3_PRIME chr3 113787307
chr3:113787330
A
A
 G
G
 1 a0001c0001t0002g0039
a0001c0001t0002g0039
 1 NA19075.hp2
NA19075.hp2
 intron_variant MODIFIER c.716+947A>G
c.716+947A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113787330
chr3:113787412
CA
CA
 C
C
 5 a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA19012.hp2
 intron_variant MODIFIER c.716+1030delA
c.716+1030delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113787412
chr3:113787435
T
T
 C
C
 4 a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
others(1): Show 
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 5 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(2): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
 intron_variant MODIFIER c.716+1052T>C
c.716+1052T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113787435
chr3:113787595
T
T
 C
C
 13 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
a0001c0001t0023g0279
 13 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(10): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.717-1118T>C
c.717-1118T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113787595
chr3:113787708
A
A
 T
T
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.717-1005A>T
c.717-1005A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113787708
chr3:113787887
G
G
 A
A
 118 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(115): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 130 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(127): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.717-826G>A
c.717-826G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113787887
chr3:113787965
G
G
 C
C
 3 a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
 3 HG00642.hp1
HG01074.hp2
HG01099.hp2
HG00642.hp1
HG01074.hp2
HG01099.hp2
 intron_variant MODIFIER c.717-748G>C
c.717-748G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113787965
chr3:113788025
A
A
 G
G
 1 a0001c0001t0006g0138
a0001c0001t0006g0138
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.717-688A>G
c.717-688A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113788025
chr3:113788106
A
A
 G
G
 1 a0001c0001t0001g0014
a0001c0001t0001g0014
 2 HG03579.hp2
NA18522.hp1
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.717-607A>G
c.717-607A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113788106
chr3:113788144
C
C
 T
T
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.717-569C>T
c.717-569C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113788144
chr3:113788235
T
T
 C
C
 1 a0001c0001t0002g0077
a0001c0001t0002g0077
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.717-478T>C
c.717-478T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113788235
chr3:113788395
C
C
 T
T
 5 a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0002g0132
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
 5 HG00609.hp1
HG00642.hp1
HG01074.hp2
others(2): Show 
HG00609.hp1
HG00642.hp1
HG01074.hp2
HG01099.hp2
NA18956.hp2
 intron_variant MODIFIER c.717-318C>T
c.717-318C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113788395
chr3:113788598
G
G
 A
A
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.717-115G>A
c.717-115G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113788598
chr3:113788629
G
G
 A
A
 1 a0001c0001t0002g0078
a0001c0001t0002g0078
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.717-84G>A
c.717-84G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 chr3 113788629
chr3:113788688
T
T
 TC
TC
 4 a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
 5 HG02559.hp1
HG02622.hp1
HG02922.hp2
others(2): Show 
HG02559.hp1
HG02622.hp1
HG02922.hp2
HG02965.hp1
HG03471.hp1
 intron_variant MODIFIER c.717-23dupC
c.717-23dupC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 6/14 INFO_REALIGN_3_PRIME chr3 113788688
chr3:113788902
C
C
 G
G
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.879+27C>G
c.879+27C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 chr3 113788902
chr3:113788980
G
G
 A
A
 1 a0001c0001t0003g0124
a0001c0001t0003g0124
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.879+105G>A
c.879+105G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 chr3 113788980
chr3:113789073
G
G
 A
A
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.879+198G>A
c.879+198G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 chr3 113789073
chr3:113789107
A
A
 G
G
 110 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(107): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
 121 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(118): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.879+232A>G
c.879+232A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 chr3 113789107
chr3:113789396
C
C
 T
T
 1 a0001c0001t0001g0263
a0001c0001t0001g0263
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.880-336C>T
c.880-336C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 chr3 113789396
chr3:113789422
A
A
 C
C
 2 a0001c0001t0002g0052
a0001c0001t0002g0056
a0001c0001t0002g0052
a0001c0001t0002g0056
 2 HG02055.hp2
HG03486.hp2
HG02055.hp2
HG03486.hp2
 intron_variant MODIFIER c.880-310A>C
c.880-310A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 chr3 113789422
chr3:113789488
T
T
 C
C
 108 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(105): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 119 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(116): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.880-244T>C
c.880-244T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 chr3 113789488
chr3:113789652
T
T
 TA
TA
 134 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(131): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
a0001c0001t0023g0279
 146 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(143): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.880-69dupA
c.880-69dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 INFO_REALIGN_3_PRIME chr3 113789652
chr3:113789716
T
T
 C
C
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.880-16T>C
c.880-16T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 7/14 chr3 113789716
chr3:113790041
C
C
 G
G
 110 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(107): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
 121 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(118): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.988+201C>G
c.988+201C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113790041
chr3:113790142
C
C
 G
G
 121 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(118): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 133 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(130): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.988+302C>G
c.988+302C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113790142
chr3:113790302
C
C
 CA
CA
 41 a0001c0001t0001g0116
a0001c0001t0001g0152
a0001c0001t0001g0158
others(38): Show 
a0001c0001t0001g0116
a0001c0001t0001g0152
a0001c0001t0001g0158
a0001c0001t0001g0168
a0001c0001t0001g0171
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0180
a0001c0001t0001g0187
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0210
a0001c0001t0001g0216
a0001c0001t0001g0256
a0001c0001t0001g0262
a0001c0001t0001g0264
a0001c0001t0001g0269
a0001c0001t0001g0271
a0001c0001t0001g0274
a0001c0001t0001g0276
a0001c0001t0001g0288
a0001c0001t0002g0045
a0001c0001t0002g0056
a0001c0001t0002g0059
a0001c0001t0002g0086
a0001c0001t0002g0101
a0001c0001t0002g0104
a0001c0001t0002g0118
a0001c0001t0003g0119
a0001c0001t0003g0121
a0001c0001t0003g0123
a0001c0001t0003g0126
a0001c0001t0004g0018
a0001c0001t0004g0026
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0011g0112
a0001c0001t0014g0019
 41 HG00642.hp2
HG00673.hp1
HG01106.hp2
others(38): Show 
HG00642.hp2
HG00673.hp1
HG01106.hp2
HG01175.hp2
HG01934.hp1
HG02055.hp2
HG02257.hp1
HG02258.hp1
HG02486.hp1
HG02622.hp2
HG02698.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG03098.hp2
HG03453.hp1
HG03453.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18906.hp2
NA18950.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18981.hp1
NA18985.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA19003.hp2
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19090.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.988+487dupA
c.988+487dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 INFO_REALIGN_3_PRIME chr3 113790302
chr3:113790340
G
G
 A
A
 135 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(132): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0153
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0001g0277
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
a0001c0001t0023g0279
 147 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(144): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.988+500G>A
c.988+500G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113790340
chr3:113790577
C
C
 T
T
 2 a0001c0001t0002g0063
a0001c0001t0002g0084
a0001c0001t0002g0063
a0001c0001t0002g0084
 2 HG02055.hp1
NA21309.hp2
HG02055.hp1
NA21309.hp2
 intron_variant MODIFIER c.988+737C>T
c.988+737C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113790577
chr3:113790865
T
T
 C
C
 2 a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0130
a0001c0001t0002g0131
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.988+1025T>C
c.988+1025T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113790865
chr3:113790927
G
G
 A
A
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.988+1087G>A
c.988+1087G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113790927
chr3:113791079
A
A
 G
G
 5 a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
others(2): Show 
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
 5 HG02055.hp2
HG02559.hp1
HG02922.hp2
others(2): Show 
HG02055.hp2
HG02559.hp1
HG02922.hp2
HG03471.hp1
HG03486.hp2
 intron_variant MODIFIER c.988+1239A>G
c.988+1239A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113791079
chr3:113791187
T
T
 C
C
 7 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(4): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0016g0027
 7 HG01106.hp1
HG01358.hp1
HG02818.hp1
others(4): Show 
HG01106.hp1
HG01358.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.988+1347T>C
c.988+1347T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113791187
chr3:113791391
A
A
 AGGGTTTT
others(322): Show 
AGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG
AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT
CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA
GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT
TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT
CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG
GGATTACAGGCGTGAGCCACCGCGCCCGGC
 1 a0001c0001t0001g0179
a0001c0001t0001g0179
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.988+1569_988+1570i
others(331): Show 
c.988+1569_988+1570insTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA
TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC
TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT
AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT
GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG
CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGGGTTTTTTTTTTTTTT
T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 INFO_REALIGN_3_PRIME chr3 113791391
chr3:113791394
G
G
 GT
GT
 6 a0001c0001t0001g0013
a0001c0001t0001g0169
a0001c0001t0001g0171
others(3): Show 
a0001c0001t0001g0013
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0258
a0001c0001t0001g0261
a0001c0001t0003g0136
 7 HG02165.hp2
NA18961.hp1
NA18965.hp1
others(4): Show 
HG02165.hp2
NA18961.hp1
NA18965.hp1
NA18966.hp1
NA18980.hp1
NA19011.hp2
NA19075.hp1
 intron_variant MODIFIER c.988+1569dupT
c.988+1569dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 INFO_REALIGN_3_PRIME chr3 113791394
chr3:113791394
GT
GT
 G
G
 121 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(118): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0153
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0001g0277
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
a0001c0001t0023g0279
 132 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(129): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.988+1569delT
c.988+1569delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 INFO_REALIGN_3_PRIME chr3 113791394
chr3:113791394
GTT
GTT
 G
G
 5 a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
others(2): Show 
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0014g0019
 6 HG01934.hp2
HG01952.hp1
HG02148.hp1
others(3): Show 
HG01934.hp2
HG01952.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
 intron_variant MODIFIER c.988+1568_988+1569d
others(4): Show 
c.988+1568_988+1569delTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 INFO_REALIGN_3_PRIME chr3 113791394
chr3:113791708
TCTC
TCTC
 T
T
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.988+1872_988+1874d
others(5): Show 
c.988+1872_988+1874delCTC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 INFO_REALIGN_3_PRIME chr3 113791708
chr3:113791865
AGCACTCT
others(23): Show 
AGCACTCTTGCTTTGTTTGGAAACAAACAAG
 A
A
 101 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(98): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0153
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 112 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(109): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.988+2031_988+2060d
others(32): Show 
c.988+2031_988+2060delCTTGCTTTGTTTGGAAACAAACAAGGCA
CT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 INFO_REALIGN_3_PRIME chr3 113791865
chr3:113792061
A
A
 C
C
 13 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
a0001c0001t0023g0279
 13 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(10): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.988+2221A>C
c.988+2221A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792061
chr3:113792165
T
T
 C
C
 1 a0001c0001t0001g0233
a0001c0001t0001g0233
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.988+2325T>C
c.988+2325T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792165
chr3:113792216
C
C
 T
T
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.988+2376C>T
c.988+2376C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792216
chr3:113792340
G
G
 T
T
 1 a0001c0001t0002g0107
a0001c0001t0002g0107
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.988+2500G>T
c.988+2500G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792340
chr3:113792374
A
A
 G
G
 1 a0001c0001t0002g0066
a0001c0001t0002g0066
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.989-2498A>G
c.989-2498A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792374
chr3:113792538
T
T
 C
C
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.989-2334T>C
c.989-2334T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792538
chr3:113792657
A
A
 G
G
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.989-2215A>G
c.989-2215A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792657
chr3:113792684
A
A
 G
G
 11 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(8): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 12 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(9): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA18975.hp2
NA19012.hp2
NA19065.hp1
NA20300.hp2
 intron_variant MODIFIER c.989-2188A>G
c.989-2188A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792684
chr3:113792819
G
G
 A
A
 1 a0001c0001t0002g0063
a0001c0001t0002g0063
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.989-2053G>A
c.989-2053G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113792819
chr3:113793114
C
C
 T
T
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.989-1758C>T
c.989-1758C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113793114
chr3:113793122
C
C
 T
T
 1 a0001c0001t0003g0136
a0001c0001t0003g0136
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.989-1750C>T
c.989-1750C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113793122
chr3:113793600
A
A
 G
G
 1 a0001c0001t0002g0100
a0001c0001t0002g0100
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.989-1272A>G
c.989-1272A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113793600
chr3:113793712
A
A
 G
G
 1 a0001c0001t0001g0161
a0001c0001t0001g0161
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.989-1160A>G
c.989-1160A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113793712
chr3:113793767
G
G
 A
A
 1 a0001c0001t0002g0070
a0001c0001t0002g0070
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.989-1105G>A
c.989-1105G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113793767
chr3:113794288
A
A
 G
G
 1 a0001c0001t0020g0226
a0001c0001t0020g0226
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.989-584A>G
c.989-584A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113794288
chr3:113794417
C
C
 G
G
 11 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(8): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 12 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(9): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA18975.hp2
NA19012.hp2
NA19065.hp1
NA20300.hp2
 intron_variant MODIFIER c.989-455C>G
c.989-455C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113794417
chr3:113794445
A
A
 G
G
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.989-427A>G
c.989-427A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113794445
chr3:113794625
A
A
 T
T
 2 a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0218
a0001c0001t0001g0219
 2 HG02630.hp1
NA20129.hp2
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.989-247A>T
c.989-247A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113794625
chr3:113794769
C
C
 T
T
 1 a0001c0001t0014g0019
a0001c0001t0014g0019
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.989-103C>T
c.989-103C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113794769
chr3:113794849
T
T
 C
C
 3 a0001c0001t0001g0012
a0001c0001t0001g0208
a0001c0001t0001g0274
a0001c0001t0001g0012
a0001c0001t0001g0208
a0001c0001t0001g0274
 4 HG00673.hp2
HG02523.hp2
NA18972.hp2
others(1): Show 
HG00673.hp2
HG02523.hp2
NA18972.hp2
NA18995.hp2
 intron_variant MODIFIER c.989-23T>C
c.989-23T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 8/14 chr3 113794849
chr3:113795268
A
A
 C
C
 1 a0001c0001t0001g0269
a0001c0001t0001g0269
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1226+64A>C
c.1226+64A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 10/14 chr3 113795268
chr3:113795374
A
A
 G
G
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.1226+170A>G
c.1226+170A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 10/14 chr3 113795374
chr3:113795445
T
T
 G
G
 1 a0001c0001t0001g0259
a0001c0001t0001g0259
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1226+241T>G
c.1226+241T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 10/14 chr3 113795445
chr3:113795509
G
G
 A
A
 1 a0001c0001t0013g0051
a0001c0001t0013g0051
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1226+305G>A
c.1226+305G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 10/14 chr3 113795509
chr3:113795520
A
A
 G
G
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.1226+316A>G
c.1226+316A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 10/14 chr3 113795520
chr3:113795531
G
G
 A
A
 1 a0001c0001t0001g0242
a0001c0001t0001g0242
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1226+327G>A
c.1226+327G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 10/14 chr3 113795531
chr3:113795666
A
A
 G
G
 4 a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
 5 HG02559.hp1
HG02622.hp1
HG02922.hp2
others(2): Show 
HG02559.hp1
HG02622.hp1
HG02922.hp2
HG02965.hp1
HG03471.hp1
 intron_variant MODIFIER c.1227-210A>G
c.1227-210A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 10/14 chr3 113795666
chr3:113795838
CA
CA
 C
C
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.1227-37delA
c.1227-37delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 10/14 chr3 113795838
chr3:113796013
C
C
 G
G
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.1290+74C>G
c.1290+74C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113796013
chr3:113796098
A
A
 G
G
 1 a0001c0001t0001g0147
a0001c0001t0001g0147
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1290+159A>G
c.1290+159A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113796098
chr3:113796100
C
C
 G
G
 4 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(1): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0021g0031
 4 HG02258.hp2
HG02280.hp1
HG03139.hp1
others(1): Show 
HG02258.hp2
HG02280.hp1
HG03139.hp1
HG03579.hp1
 intron_variant MODIFIER c.1290+161C>G
c.1290+161C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113796100
chr3:113796213
T
T
 G
G
 109 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(106): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1290+274T>G
c.1290+274T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113796213
chr3:113796646
T
T
 TA
TA
 17 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
others(14): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0236
a0001c0001t0001g0258
a0001c0001t0002g0069
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 17 HG00408.hp1
HG00609.hp1
HG01106.hp1
others(14): Show 
HG00408.hp1
HG00609.hp1
HG01106.hp1
HG02040.hp2
HG02080.hp2
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
HG04204.hp2
NA18956.hp2
NA18960.hp2
NA18965.hp1
NA18991.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.1290+718dupA
c.1290+718dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 INFO_REALIGN_3_PRIME chr3 113796646
chr3:113796646
TA
TA
 T
T
 11 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(8): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 12 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(9): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA18975.hp2
NA19012.hp2
NA19065.hp1
NA20300.hp2
 intron_variant MODIFIER c.1290+718delA
c.1290+718delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 INFO_REALIGN_3_PRIME chr3 113796646
chr3:113796871
C
C
 T
T
 1 a0001c0001t0001g0176
a0001c0001t0001g0176
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1290+932C>T
c.1290+932C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113796871
chr3:113797184
G
G
 A
A
 1 a0001c0001t0001g0265
a0001c0001t0001g0265
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1291-1059G>A
c.1291-1059G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797184
chr3:113797340
T
T
 C
C
 120 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(117): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 132 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(129): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1291-903T>C
c.1291-903T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797340
chr3:113797586
G
G
 T
T
 1 a0001c0001t0002g0118
a0001c0001t0002g0118
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1291-657G>T
c.1291-657G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797586
chr3:113797648
A
A
 T
T
 1 a0001c0001t0001g0261
a0001c0001t0001g0261
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1291-595A>T
c.1291-595A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797648
chr3:113797650
T
T
 A
A
 1 a0001c0001t0001g0261
a0001c0001t0001g0261
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1291-593T>A
c.1291-593T>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797650
chr3:113797652
A
A
 T
T
 1 a0001c0001t0001g0261
a0001c0001t0001g0261
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1291-591A>T
c.1291-591A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797652
chr3:113797729
T
T
 C
C
 289 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(286): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0015g0237
a0001c0001t0016g0027
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0019g0283
a0001c0001t0020g0226
a0001c0001t0021g0031
a0001c0001t0022g0035
a0001c0001t0023g0279
 311 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(308): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.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.1291-514T>C
c.1291-514T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797729
chr3:113797730
G
G
 A
A
 4 a0001c0001t0002g0042
a0001c0001t0002g0059
a0001c0001t0002g0072
others(1): Show 
a0001c0001t0002g0042
a0001c0001t0002g0059
a0001c0001t0002g0072
a0001c0001t0002g0076
 4 HG00438.hp2
NA18984.hp1
NA19067.hp1
others(1): Show 
HG00438.hp2
NA18984.hp1
NA19067.hp1
NA19085.hp2
 intron_variant MODIFIER c.1291-513G>A
c.1291-513G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797730
chr3:113797756
T
T
 G
G
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.1291-487T>G
c.1291-487T>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797756
chr3:113797817
T
T
 C
C
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.1291-426T>C
c.1291-426T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797817
chr3:113797915
A
A
 G
G
 1 a0001c0001t0002g0076
a0001c0001t0002g0076
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1291-328A>G
c.1291-328A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113797915
chr3:113798082
G
G
 A
A
 2 a0001c0001t0001g0011
a0001c0001t0001g0160
a0001c0001t0001g0011
a0001c0001t0001g0160
 3 HG01515.hp1
HG01516.hp1
HG01517.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp2
 intron_variant MODIFIER c.1291-161G>A
c.1291-161G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113798082
chr3:113798181
AT
AT
 A
A
 11 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(8): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 12 HG01891.hp2
HG01934.hp2
HG01952.hp1
others(9): Show 
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG03098.hp2
NA18975.hp2
NA19012.hp2
NA19065.hp1
NA20300.hp2
 intron_variant MODIFIER c.1291-56delT
c.1291-56delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 INFO_REALIGN_3_PRIME chr3 113798181
chr3:113798228
G
G
 T
T
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1291-15G>T
c.1291-15G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 11/14 chr3 113798228
chr3:113798472
T
T
 C
C
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.1494+26T>C
c.1494+26T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113798472
chr3:113798714
G
G
 A
A
 1 a0001c0001t0003g0121
a0001c0001t0003g0121
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.1494+268G>A
c.1494+268G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113798714
chr3:113798795
A
A
 G
G
 1 a0001c0001t0001g0204
a0001c0001t0001g0204
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.1494+349A>G
c.1494+349A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113798795
chr3:113798898
G
G
 A
A
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.1494+452G>A
c.1494+452G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113798898
chr3:113798914
A
A
 G
G
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1494+468A>G
c.1494+468A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113798914
chr3:113798924
C
C
 T
T
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.1494+478C>T
c.1494+478C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113798924
chr3:113799127
A
A
 G
G
 1 a0001c0001t0001g0202
a0001c0001t0001g0202
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.1494+681A>G
c.1494+681A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113799127
chr3:113799553
A
A
 G
G
 1 a0001c0001t0002g0068
a0001c0001t0002g0068
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1494+1107A>G
c.1494+1107A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113799553
chr3:113799555
T
T
 C
C
 100 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(97): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 111 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(108): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1494+1109T>C
c.1494+1109T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113799555
chr3:113799628
G
G
 T
T
 1 a0001c0001t0001g0260
a0001c0001t0001g0260
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1494+1182G>T
c.1494+1182G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113799628
chr3:113799681
CAAAT
CAAAT
 C
C
 4 a0001c0001t0002g0114
a0001c0001t0002g0129
a0001c0001t0002g0130
others(1): Show 
a0001c0001t0002g0114
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
 4 HG02896.hp1
HG02897.hp1
HG03130.hp2
others(1): Show 
HG02896.hp1
HG02897.hp1
HG03130.hp2
NA21309.hp1
 intron_variant MODIFIER c.1494+1238_1494+124
others(8): Show 
c.1494+1238_1494+1241delATAA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113799681
chr3:113799755
T
T
 C
C
 100 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(97): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 111 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(108): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1494+1309T>C
c.1494+1309T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113799755
chr3:113799950
A
A
 G
G
 1 a0001c0001t0002g0108
a0001c0001t0002g0108
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1494+1504A>G
c.1494+1504A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113799950
chr3:113800231
C
C
 CA
CA
 7 a0001c0001t0001g0261
a0001c0001t0001g0274
a0001c0001t0002g0004
others(4): Show 
a0001c0001t0001g0261
a0001c0001t0001g0274
a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0014g0019
 8 HG02486.hp1
HG02559.hp1
HG02622.hp1
others(5): Show 
HG02486.hp1
HG02559.hp1
HG02622.hp1
HG02922.hp2
HG02965.hp1
HG03471.hp1
NA18995.hp2
NA19075.hp1
 intron_variant MODIFIER c.1494+1801dupA
c.1494+1801dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113800231
chr3:113800231
C
C
 CAA
CAA
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.1494+1800_1494+180
others(6): Show 
c.1494+1800_1494+1801dupAA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113800231
chr3:113800321
C
C
 A
A
 8 a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0150
others(5): Show 
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0236
 8 HG00408.hp1
HG00609.hp1
HG02040.hp2
others(5): Show 
HG00408.hp1
HG00609.hp1
HG02040.hp2
HG02080.hp2
HG04204.hp2
NA18956.hp2
NA18960.hp2
NA18991.hp2
 intron_variant MODIFIER c.1494+1875C>A
c.1494+1875C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113800321
chr3:113800361
A
A
 G
G
 1 a0001c0001t0002g0079
a0001c0001t0002g0079
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.1494+1915A>G
c.1494+1915A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113800361
chr3:113800401
A
A
 G
G
 289 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(286): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0015g0237
a0001c0001t0016g0027
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0019g0283
a0001c0001t0020g0226
a0001c0001t0021g0031
a0001c0001t0022g0035
a0001c0001t0023g0279
 311 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(308): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.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.1494+1955A>G
c.1494+1955A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113800401
chr3:113800498
G
G
 A
A
 1 a0001c0001t0003g0123
a0001c0001t0003g0123
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1494+2052G>A
c.1494+2052G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113800498
chr3:113800508
G
G
 T
T
 288 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(285): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0015g0237
a0001c0001t0016g0027
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0019g0283
a0001c0001t0020g0226
a0001c0001t0021g0031
a0001c0001t0022g0035
a0001c0001t0023g0279
 310 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(307): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.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.1494+2062G>T
c.1494+2062G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113800508
chr3:113800563
G
G
 A
A
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1494+2117G>A
c.1494+2117G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113800563
chr3:113800633
G
G
 C
C
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1494+2187G>C
c.1494+2187G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113800633
chr3:113800746
C
C
 CA
CA
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.1494+2308dupA
c.1494+2308dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113800746
chr3:113801237
TA
TA
 T
T
 289 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(286): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0015g0237
a0001c0001t0016g0027
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0019g0283
a0001c0001t0020g0226
a0001c0001t0021g0031
a0001c0001t0022g0035
a0001c0001t0023g0279
 311 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(308): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.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.1495-2336delA
c.1495-2336delA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113801237
chr3:113801391
G
G
 A
A
 4 a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
 5 HG02559.hp1
HG02622.hp1
HG02922.hp2
others(2): Show 
HG02559.hp1
HG02622.hp1
HG02922.hp2
HG02965.hp1
HG03471.hp1
 intron_variant MODIFIER c.1495-2192G>A
c.1495-2192G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113801391
chr3:113801714
A
A
 AGCAGCAG
others(10): Show 
AGCAGCAGACCATGTTGC
 1 a0001c0001t0001g0249
a0001c0001t0001g0249
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1495-1868_1495-185
others(21): Show 
c.1495-1868_1495-1852dupGCAGCAGACCATGTTGC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113801714
chr3:113801729
T
T
 C
C
 120 a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
others(117): Show 
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 132 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(129): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18965.hp2
NA18966.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1495-1854T>C
c.1495-1854T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113801729
chr3:113801918
C
C
 CA
CA
 10 a0001c0001t0001g0197
a0001c0001t0001g0204
a0001c0001t0001g0206
others(7): Show 
a0001c0001t0001g0197
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0274
a0001c0001t0001g0276
a0001c0001t0002g0038
a0001c0001t0002g0046
a0001c0001t0002g0052
a0001c0001t0002g0132
a0001c0001t0007g0281
 10 HG01099.hp2
HG01175.hp2
HG01934.hp1
others(7): Show 
HG01099.hp2
HG01175.hp2
HG01934.hp1
HG03486.hp2
HG04199.hp1
NA18950.hp1
NA18950.hp2
NA18993.hp1
NA18995.hp2
NA20300.hp2
 intron_variant MODIFIER c.1495-1651dupA
c.1495-1651dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113801918
chr3:113801932
AC
AC
 A
A
 6 a0001c0001t0002g0008
a0001c0001t0002g0034
a0001c0001t0002g0106
others(3): Show 
a0001c0001t0002g0008
a0001c0001t0002g0034
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0115
a0001c0001t0004g0022
 7 HG01346.hp1
HG01515.hp2
HG01517.hp1
others(4): Show 
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG02602.hp1
NA19011.hp1
NA19043.hp1
NA20752.hp2
 intron_variant MODIFIER c.1495-1650delC
c.1495-1650delC
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113801932
chr3:113801933
C
C
 A
A
 109 a0001c0001t0001g0014
a0001c0001t0001g0147
a0001c0001t0001g0148
others(106): Show 
a0001c0001t0001g0014
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0001g0272
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0019g0283
 120 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(117): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01891.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1495-1650C>A
c.1495-1650C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113801933
chr3:113801997
A
A
 C
C
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.1495-1586A>C
c.1495-1586A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113801997
chr3:113802088
G
G
 C
C
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.1495-1495G>C
c.1495-1495G>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802088
chr3:113802148
CAGACAT
CAGACAT
 C
C
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.1495-1431_1495-142
others(10): Show 
c.1495-1431_1495-1426delCATAGA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113802148
chr3:113802217
A
A
 G
G
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1495-1366A>G
c.1495-1366A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802217
chr3:113802249
C
C
 CAAACTT
CAAACTT
 117 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(114): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 129 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(126): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1495-1332_1495-133
others(10): Show 
c.1495-1332_1495-1331insACTTAA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113802249
chr3:113802250
A
A
 C
C
 1 a0001c0001t0001g0239
a0001c0001t0001g0239
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1495-1333A>C
c.1495-1333A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802250
chr3:113802362
C
C
 T
T
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.1495-1221C>T
c.1495-1221C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802362
chr3:113802487
C
C
 T
T
 104 a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
others(101): Show 
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
 115 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(112): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1495-1096C>T
c.1495-1096C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802487
chr3:113802592
G
G
 A
A
 2 a0001c0001t0002g0057
a0001c0001t0002g0088
a0001c0001t0002g0057
a0001c0001t0002g0088
 2 NA18953.hp1
NA18972.hp1
NA18953.hp1
NA18972.hp1
 intron_variant MODIFIER c.1495-991G>A
c.1495-991G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802592
chr3:113802631
A
A
 G
G
 3 a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
 3 NA18961.hp1
NA18980.hp1
NA18986.hp2
NA18961.hp1
NA18980.hp1
NA18986.hp2
 intron_variant MODIFIER c.1495-952A>G
c.1495-952A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802631
chr3:113802665
A
A
 AT
AT
 159 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(156): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0276
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0075
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0008g0083
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0015g0237
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0020g0226
a0001c0001t0021g0031
 169 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(166): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02132.hp1
HG02135.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18953.hp2
NA18955.hp2
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp2
NA19003.hp2
NA19005.hp2
NA19006.hp1
NA19007.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19065.hp2
NA19067.hp2
NA19074.hp1
NA19075.hp1
NA19081.hp2
NA19085.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1495-909dupT
c.1495-909dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113802665
chr3:113802721
C
C
 T
T
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.1495-862C>T
c.1495-862C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802721
chr3:113802823
T
T
 C
C
 1 a0001c0001t0001g0276
a0001c0001t0001g0276
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1495-760T>C
c.1495-760T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802823
chr3:113802919
T
T
 C
C
 1 a0001c0001t0001g0200
a0001c0001t0001g0200
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1495-664T>C
c.1495-664T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113802919
chr3:113803051
G
G
 GTA
GTA
 4 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
others(1): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0021g0031
 4 HG02258.hp2
HG02280.hp1
HG03139.hp1
others(1): Show 
HG02258.hp2
HG02280.hp1
HG03139.hp1
HG03579.hp1
 intron_variant MODIFIER c.1495-519_1495-518d
others(4): Show 
c.1495-519_1495-518dupTA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 INFO_REALIGN_3_PRIME chr3 113803051
chr3:113803276
C
C
 G
G
 117 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(114): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 129 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(126): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1495-307C>G
c.1495-307C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113803276
chr3:113803411
A
A
 T
T
 1 a0001c0001t0001g0263
a0001c0001t0001g0263
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1495-172A>T
c.1495-172A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 12/14 chr3 113803411
chr3:113803697
T
T
 C
C
 106 a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
others(103): Show 
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
 117 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(114): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1589+20T>C
c.1589+20T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113803697
chr3:113803746
TAAA
TAAA
 T
T
 13 a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
others(10): Show 
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0022g0035
a0001c0001t0023g0279
 13 HG02145.hp2
HG02698.hp2
HG02738.hp2
others(10): Show 
HG02145.hp2
HG02698.hp2
HG02738.hp2
HG02896.hp2
HG03942.hp1
HG04184.hp1
NA18966.hp1
NA18967.hp2
NA18980.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19066.hp2
 intron_variant MODIFIER c.1589+72_1589+74del
others(3): Show 
c.1589+72_1589+74delAAA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 INFO_REALIGN_3_PRIME chr3 113803746
chr3:113803753
C
C
 T
T
 2 a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0256
a0001c0001t0001g0257
 2 NA18971.hp1
NA19060.hp2
NA18971.hp1
NA19060.hp2
 intron_variant MODIFIER c.1589+76C>T
c.1589+76C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113803753
chr3:113803842
C
C
 T
T
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.1589+165C>T
c.1589+165C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113803842
chr3:113803845
T
T
 C
C
 1 a0001c0001t0004g0018
a0001c0001t0004g0018
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1589+168T>C
c.1589+168T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113803845
chr3:113803959
C
C
 A
A
 1 a0001c0001t0022g0035
a0001c0001t0022g0035
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1589+282C>A
c.1589+282C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113803959
chr3:113803975
C
C
 A
A
 1 a0001c0001t0002g0118
a0001c0001t0002g0118
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1589+298C>A
c.1589+298C>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113803975
chr3:113804041
G
G
 A
A
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 2 HG02976.hp2
HG03540.hp2
HG02976.hp2
HG03540.hp2
 intron_variant MODIFIER c.1589+364G>A
c.1589+364G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113804041
chr3:113804145
C
C
 T
T
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.1589+468C>T
c.1589+468C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113804145
chr3:113804157
A
A
 AT
AT
 6 a0001c0001t0001g0249
a0001c0001t0001g0261
a0001c0001t0001g0265
others(3): Show 
a0001c0001t0001g0249
a0001c0001t0001g0261
a0001c0001t0001g0265
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 6 HG00558.hp2
HG01261.hp1
HG01891.hp2
others(3): Show 
HG00558.hp2
HG01261.hp1
HG01891.hp2
HG03098.hp2
NA19075.hp1
NA20300.hp2
 intron_variant MODIFIER c.1589+495dupT
c.1589+495dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 INFO_REALIGN_3_PRIME chr3 113804157
chr3:113804448
T
T
 C
C
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1589+771T>C
c.1589+771T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113804448
chr3:113804656
C
C
 T
T
 1 a0001c0001t0001g0177
a0001c0001t0001g0177
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1590-698C>T
c.1590-698C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113804656
chr3:113804665
G
G
 A
A
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.1590-689G>A
c.1590-689G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113804665
chr3:113804673
C
C
 G
G
 1 a0001c0001t0020g0226
a0001c0001t0020g0226
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1590-681C>G
c.1590-681C>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113804673
chr3:113804706
C
C
 T
T
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.1590-648C>T
c.1590-648C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113804706
chr3:113804828
G
G
 A
A
 1 a0001c0001t0002g0054
a0001c0001t0002g0054
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1590-526G>A
c.1590-526G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113804828
chr3:113805008
A
A
 G
G
 3 a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0273
a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0273
 3 HG00323.hp1
HG01361.hp1
HG03239.hp1
HG00323.hp1
HG01361.hp1
HG03239.hp1
 intron_variant MODIFIER c.1590-346A>G
c.1590-346A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113805008
chr3:113805032
G
G
 A
A
 1 a0001c0001t0019g0283
a0001c0001t0019g0283
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1590-322G>A
c.1590-322G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113805032
chr3:113805054
C
C
 T
T
 96 a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
others(93): Show 
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 107 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(104): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1590-300C>T
c.1590-300C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113805054
chr3:113805102
A
A
 G
G
 2 a0001c0001t0004g0018
a0001c0001t0014g0019
a0001c0001t0004g0018
a0001c0001t0014g0019
 2 HG02486.hp1
NA18522.hp2
HG02486.hp1
NA18522.hp2
 intron_variant MODIFIER c.1590-252A>G
c.1590-252A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113805102
chr3:113805225
G
G
 A
A
 1 a0001c0001t0001g0209
a0001c0001t0001g0209
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1590-129G>A
c.1590-129G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113805225
chr3:113805226
G
G
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1590-128G>T
c.1590-128G>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 13/14 chr3 113805226
chr3:113805579
T
T
 A
A
 1 a0001c0001t0002g0063
a0001c0001t0002g0063
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1761+54T>A
c.1761+54T>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113805579
chr3:113805707
G
G
 A
A
 2 a0001c0001t0001g0191
a0001c0001t0001g0253
a0001c0001t0001g0191
a0001c0001t0001g0253
 2 HG02056.hp1
HG02523.hp1
HG02056.hp1
HG02523.hp1
 intron_variant MODIFIER c.1761+182G>A
c.1761+182G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113805707
chr3:113806343
A
A
 T
T
 6 a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
others(3): Show 
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
 6 HG01106.hp1
HG02818.hp1
HG02895.hp1
others(3): Show 
HG01106.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp2
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.1761+818A>T
c.1761+818A>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113806343
chr3:113806527
C
C
 T
T
 1 a0001c0001t0002g0044
a0001c0001t0002g0044
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1761+1002C>T
c.1761+1002C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113806527
chr3:113806616
G
G
 A
A
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 NA18965.hp1
NA18965.hp1
 intron_variant MODIFIER c.1761+1091G>A
c.1761+1091G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113806616
chr3:113807020
G
G
 A
A
 8 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
 9 HG01934.hp2
HG01952.hp1
HG02040.hp1
others(6): Show 
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
NA18975.hp2
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.1761+1495G>A
c.1761+1495G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113807020
chr3:113807109
A
A
 C
C
 130 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(127): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
a0001c0001t0022g0035
a0001c0001t0023g0279
 142 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(139): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18966.hp1
NA18967.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1761+1584A>C
c.1761+1584A>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113807109
chr3:113807184
CT
CT
 C
C
 120 a0001c0001t0001g0137
a0001c0001t0001g0148
a0001c0001t0001g0157
others(117): Show 
a0001c0001t0001g0137
a0001c0001t0001g0148
a0001c0001t0001g0157
a0001c0001t0001g0173
a0001c0001t0001g0183
a0001c0001t0001g0216
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 132 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(129): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1761+1672delT
c.1761+1672delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 INFO_REALIGN_3_PRIME chr3 113807184
chr3:113807313
T
T
 C
C
 3 a0001c0001t0001g0202
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0202
a0001c0001t0001g0256
a0001c0001t0001g0257
 3 NA18971.hp1
NA19060.hp2
NA19065.hp2
NA18971.hp1
NA19060.hp2
NA19065.hp2
 intron_variant MODIFIER c.1761+1788T>C
c.1761+1788T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113807313
chr3:113807459
A
A
 G
G
 117 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(114): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0016g0027
a0001c0001t0019g0283
 129 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(126): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1762-1876A>G
c.1762-1876A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113807459
chr3:113807657
T
T
 C
C
 1 a0001c0001t0002g0070
a0001c0001t0002g0070
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1762-1678T>C
c.1762-1678T>C
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113807657
chr3:113807778
C
C
 T
T
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1762-1557C>T
c.1762-1557C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113807778
chr3:113808130
G
G
 GA
GA
 18 a0001c0001t0001g0029
a0001c0001t0001g0137
a0001c0001t0001g0142
others(15): Show 
a0001c0001t0001g0029
a0001c0001t0001g0137
a0001c0001t0001g0142
a0001c0001t0001g0148
a0001c0001t0001g0153
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0253
a0001c0001t0001g0264
a0001c0001t0001g0275
a0001c0001t0001g0289
a0001c0001t0002g0048
a0001c0001t0002g0093
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0017g0220
 19 HG00423.hp1
HG01361.hp2
HG01934.hp2
others(16): Show 
HG00423.hp1
HG01361.hp2
HG01934.hp2
HG01952.hp1
HG02040.hp1
HG02056.hp1
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp1
HG02615.hp1
HG03139.hp1
HG03139.hp2
NA18975.hp2
NA18985.hp2
NA18991.hp2
NA19000.hp1
NA19012.hp2
NA19065.hp1
 intron_variant MODIFIER c.1762-1191dupA
c.1762-1191dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 INFO_REALIGN_3_PRIME chr3 113808130
chr3:113808145
CAAAGA
CAAAGA
 C
C
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.1762-1176_1762-117
others(9): Show 
c.1762-1176_1762-1172delGAAAA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 INFO_REALIGN_3_PRIME chr3 113808145
chr3:113808287
C
C
 CT
CT
 149 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(146): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0151
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0276
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0008g0083
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0015g0237
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0020g0226
a0001c0001t0022g0035
 159 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(156): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18944.hp1
NA18950.hp2
NA18951.hp2
NA18953.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18997.hp1
NA18998.hp2
NA18999.hp2
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19065.hp2
NA19067.hp2
NA19074.hp1
NA19075.hp1
NA19081.hp2
NA19085.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1762-1027dupT
c.1762-1027dupT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 INFO_REALIGN_3_PRIME chr3 113808287
chr3:113808287
C
C
 CTT
CTT
 7 a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0176
others(4): Show 
a0001c0001t0001g0150
a0001c0001t0001g0152
a0001c0001t0001g0176
a0001c0001t0001g0203
a0001c0001t0001g0207
a0001c0001t0001g0230
a0001c0001t0001g0232
 7 HG02698.hp1
HG02738.hp1
HG03654.hp2
others(4): Show 
HG02698.hp1
HG02738.hp1
HG03654.hp2
NA18956.hp2
NA18963.hp1
NA18978.hp1
NA19006.hp1
 intron_variant MODIFIER c.1762-1028_1762-102
others(6): Show 
c.1762-1028_1762-1027dupTT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 INFO_REALIGN_3_PRIME chr3 113808287
chr3:113808287
CT
CT
 C
C
 110 a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
others(107): Show 
a0001c0001t0001g0137
a0001c0001t0001g0183
a0001c0001t0001g0224
a0001c0001t0001g0275
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0016g0027
a0001c0001t0019g0283
 122 HG00140.hp2
HG00280.hp1
HG00408.hp2
others(119): Show 
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp2
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1762-1027delT
c.1762-1027delT
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 INFO_REALIGN_3_PRIME chr3 113808287
chr3:113808351
A
A
 G
G
 289 a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
others(286): Show 
a0001c0001t0001g0002
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0020
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0116
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0162
a0001c0001t0001g0163
a0001c0001t0001g0164
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0186
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0195
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0234
a0001c0001t0001g0235
a0001c0001t0001g0236
a0001c0001t0001g0238
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0243
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0246
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0253
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0261
a0001c0001t0001g0262
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0268
a0001c0001t0001g0269
a0001c0001t0001g0270
a0001c0001t0001g0271
a0001c0001t0001g0272
a0001c0001t0001g0273
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0276
a0001c0001t0001g0277
a0001c0001t0001g0278
a0001c0001t0001g0280
a0001c0001t0001g0284
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0289
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0003g0119
a0001c0001t0003g0120
a0001c0001t0003g0121
a0001c0001t0003g0122
a0001c0001t0003g0123
a0001c0001t0003g0124
a0001c0001t0003g0125
a0001c0001t0003g0126
a0001c0001t0003g0127
a0001c0001t0003g0128
a0001c0001t0003g0136
a0001c0001t0004g0018
a0001c0001t0004g0021
a0001c0001t0004g0022
a0001c0001t0004g0023
a0001c0001t0004g0024
a0001c0001t0004g0025
a0001c0001t0004g0026
a0001c0001t0005g0016
a0001c0001t0005g0181
a0001c0001t0005g0196
a0001c0001t0005g0217
a0001c0001t0005g0267
a0001c0001t0006g0010
a0001c0001t0006g0138
a0001c0001t0006g0139
a0001c0001t0006g0140
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0008g0083
a0001c0001t0008g0165
a0001c0001t0009g0154
a0001c0001t0009g0155
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
a0001c0001t0014g0019
a0001c0001t0015g0237
a0001c0001t0016g0027
a0001c0001t0017g0220
a0001c0001t0018g0285
a0001c0001t0019g0283
a0001c0001t0020g0226
a0001c0001t0021g0031
a0001c0001t0022g0035
a0001c0001t0023g0279
 311 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(308): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.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.1762-984A>G
c.1762-984A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113808351
chr3:113808353
G
G
 A
A
 3 a0001c0001t0002g0008
a0001c0001t0002g0107
a0001c0001t0002g0115
a0001c0001t0002g0008
a0001c0001t0002g0107
a0001c0001t0002g0115
 4 HG01346.hp1
HG01515.hp2
HG01517.hp1
others(1): Show 
HG01346.hp1
HG01515.hp2
HG01517.hp1
NA20752.hp2
 intron_variant MODIFIER c.1762-982G>A
c.1762-982G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113808353
chr3:113808355
G
G
 A
A
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.1762-980G>A
c.1762-980G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113808355
chr3:113808408
C
C
 T
T
 1 a0001c0001t0016g0027
a0001c0001t0016g0027
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.1762-927C>T
c.1762-927C>T
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113808408
chr3:113808727
A
A
 G
G
 97 a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
others(94): Show 
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 108 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(105): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1762-608A>G
c.1762-608A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113808727
chr3:113808759
A
A
 G
G
 97 a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
others(94): Show 
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0041
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 108 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(105): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1762-576A>G
c.1762-576A>G
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113808759
chr3:113809095
G
G
 GA
GA
 96 a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
others(93): Show 
a0001c0001t0002g0001
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0007
a0001c0001t0002g0008
a0001c0001t0002g0009
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0039
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0053
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0068
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0071
a0001c0001t0002g0072
a0001c0001t0002g0073
a0001c0001t0002g0074
a0001c0001t0002g0075
a0001c0001t0002g0076
a0001c0001t0002g0077
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0080
a0001c0001t0002g0081
a0001c0001t0002g0082
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0105
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0111
a0001c0001t0002g0113
a0001c0001t0002g0114
a0001c0001t0002g0115
a0001c0001t0002g0117
a0001c0001t0002g0118
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0131
a0001c0001t0002g0132
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0010g0005
a0001c0001t0011g0112
a0001c0001t0012g0062
a0001c0001t0013g0051
 107 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(104): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp2
HG00642.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18955.hp1
NA18956.hp1
NA18959.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp2
NA18972.hp1
NA18975.hp1
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18988.hp2
NA18991.hp1
NA18993.hp1
NA18995.hp1
NA18997.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19006.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19075.hp2
NA19081.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1762-230dupA
c.1762-230dupA
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 INFO_REALIGN_3_PRIME chr3 113809095
chr3:113809282
G
G
 A
A
 3 a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
a0001c0001t0007g0281
a0001c0001t0007g0282
a0001c0001t0019g0283
 3 HG01891.hp2
HG03098.hp2
NA20300.hp2
HG01891.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.1762-53G>A
c.1762-53G>A
ATP6V1A ENSG00000114573.12 transcript ENST00000273398.8 protein_coding 14/14 chr3 113809282

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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